Amzali S, Wilson VD, Bommart S, Picot MC, Galas S, Mercier J, Poucheret P, Cristol JP, Arbogast S and Laoudj-Chenivesse D (2023) “ Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy “  –Nutrients 2023 Mar 30;15(7):1673 (IF=5,90). Nutrition and Dietetics (Q1).

Baide-Mairena H, Coget A, Leboucq N, Procaccio V, Blanluet M, Meyer P, Malinge MC, François-Heude MC, Moreno M, Geneviève D, Marelli C, Roubertie A Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!  ”. Ann Clin Transl Neurol. 2023 Oct;10(10):1937-1943 (IF=5,30). Clinical Neurology (Q1); Neurosciences (Q2). 

Benarroch L, Bonne G, Rivier F, Hamroun D (2023). “The 2023 version of the gene table of neuromuscular disorders (nuclear genome).  “. Neuromuscul Disord. 2023 Jan;33(1):76-117. (IF=2,80). Clinical Neurology (Q2) ; Neurosciences (Q2).

Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C (2023). “The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.  “ . J Cyst Fibros. 2023 May;22(3):515-524. . (IF=5,53). Respiratory Systems (Q1).

Brun JF, Varlet-Marie E, Myzia J, Vachoud L, Marion B, Roques C, Raynaud de Mauverger E, Mercier J.  (2023). “Which sub-compartments of fat mass and fat-free mass are related to blood viscosity factors? “ Clin Hemorheol Microcirc. 2023 Sep 28. (IF=2,1). Hematology (Q4); Peripheral Vascular Diseases (Q3).

Bughin F, Mendelson M, Jaffuel D, PépinJL, Gagnadoux F, Goutorbe  F , Abril B , Ayoub B , Aranda A , Alagha K, Pomiès P , Roubille F, Mercier J , Molinari N , Dauvilliers  J , Héraud N and Hayot M (2023). “ Impact of a telerehabilitation programme combined with continuous positive airway pressure on symptoms and cardiometabolic risk factors in obstructive sleep apnea … “ – DIGITAL HEALTH, 2023 Apr 6:9:20552076231167009. (IF=3,90). Health Policy (Q1); Computer Science Applications (Q2); Health Informatics (Q2); Health Information Management (Q2)

Chavez‑Guevara IA, Amaro‑Gahete FJ, Ramos‑Jimenez A,  Brun JF (2023).  “ Toward Exercise Guidelines for Optimizing Fat Oxidation During Exercise in Obesity: A Systematic Review and Meta‑Regression  “.Sports Medicine 2023 Dec;53(12):2399-2416. (IF=9,8). Sport Sciences (Q1).

Claus C, Slavin M, Ansseau E, Lancelot C, Bah K, Lassche S, Fievet M, Greco A, Tomaiuolo S, Tassin A, Dudome V, Kusters B, Decleves AE, Laoudj‑Chenivesse D, van Engelen BGM, Nonclercq D, BelayewA, Kalisman N and Coppee F* (2023). “The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins“ Skeletal Muscle, 2023 Mar 7;13(1):5. (IF=4,90). Cell Biology  (Q2) ; Molecular Biol (Q2) ; Orthopedics and Sport Medicine (Q1).

Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M. (2023) ”The inherited cerebellar ataxias: an update.  ”J Neurol. 2023 Jan;270(1):208-222. (IF=5,60). Clinical Neurology (Q1).

De Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, Van Goethem C, Verebi C, Masingue M, Rendu J, Cossée M, Bergougnoux A, Frobert L, Buratti J, Lejeune É, Le Guern É, Pasquier F, Clot F, Kalatzis V, Roux AF, Cogné B, Baux D.  (2023). ”SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. ” Hum Genomics. 2023 Feb 10;17(1):7. (IF=4,50). Molecular Medicine (Q1).

Estublier B, Colineaux H, Arnaud C, Cintas P, Baudou E, Chaix Y, Rivier F, Biotteau M, Meyer P, Cheuret E. (2023).”Long-term outcomes of paediatric Guillain-Barré syndrome.  ” Dev Med Child Neurol. 2023 Jul 27. (IF=3,80). Clinical Neurology (Q2); Pediatrics (Q1).

François-Heude MC, Poulen G, Flamand Roze E, Nguyen Morel MA, Gras D, Roch-Toreilles I, Quintard A, Baroux G, Meyer P, Coubes P, Milesi C, Cambonie G, Baleine J, Sola C, Delye B, Dimopoulou E, Sanchez S, Gasnier M, Touati S, Zamora A, Pontal D, Leboucq N, Kouyoumdjian V, Lebasnier A, Sanquer S, Mariano-Goulart D, Roujeau T, Roubertie A. (2023).”Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.  ” Mov Disord Clin Pract. 2023 Feb 24;10(5):811-818. (IF=4,00). Clinical Neurology (Q2).

Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L (2023). “New insights into CC2D2A-related Joubert syndrome.  “  J Med Genet. 2023 Jun;60(6):578-586.  (IF=5,95). Genetics and Heredity (Q1).

Khatib L, Do LD, Benaiteau M, Villagrán-García M, Meyer P, Haidar LA, Demeret S, Honnorat J. (2023). “ Autoimmune Cerebellar Ataxia Associated with Anti-Glutamate Receptor δ2 Antibodies: a Rare but Treatable Entity.  “ Cerebellum. 2023 Jan 25. Sous presse. (IF=3,50). Neurosciences (Q2).

Khatib L, Do LD, Benaiteau M, Villagrán-García M, Scharf M, Meyer P, Haidar LA, Demeret S, Honnorat J  (2023).  “Correction to: Autoimmune Cerebellar Ataxia Associated with Anti-Glutamate Receptor δ2 Antibodies: a Rare but Treatable Entity.  “ . Cerebellum. 2023 Mar 13. Sous presse. (IF=3,50). Neurosciences (Q2).

Magot A, Wahbi K, Leturcq, F Jaffre S, Péréon Y, Sole G. The French BMD working group avec Cossee M et  Rivier F parmi les collaborateurs (2023).  “Diagnosis and management of Becker muscular dystrophy: the French guidelines“ – Journal of Neurology, 2023 Oct;270(10):4763-4781. (IF=5,60). Clinical Neurology (Q1).

Mondesert E, Bargnoux AS, Portet F, Laoudj-Chenivesse D, Arbogast S, Badiou S, Brun JF, Kuster N, Raynaud de Mauverger E, Cristol JP. “Cystatin C for kidney function assessment in patients with facioscapulohumeral muscular dystrophy.  “ Clin Chim Acta. 2023 Apr 1:544:117328. (IF=5,00). Medical Laboratory Technology (Q2).

Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O’Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Queen Square Genomics; Genomics England Research Consortium. (2022). “Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. “  Genet Med. 2023 Jan;25(1):76-89. (IF=8,80); Genetics and Heredity  (Q1).

Narcy L, Durand S, Grimaud M, Leboucq N, Grevent D, Cambonie G, Couloigner V, Rivier F, Meyer P, Kossorotoff M. (2023). “Cerebral sinovenous thrombosis associated with head/neck infection in children: Clues for improved management.  “ Dev Med Child Neurol. 2023 Feb;65(2):215-222.(IF=3,80). Clinical  Neurology (Q2) ;  Padiatrics (Q1).

Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D’Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs A, Udd B, Bonne G, Cossée M. (2023). “Titin copy number variations associated with dominant inherited phenotypes.  “ . J Med Genet. 2023 Nov 7:jmg-2023-109473.(IF=5,95). Genetics and Heredity (Q1).

Radu RA, Costalat V, Machi P, Derraz I, Dargazanli C, Meyer P, Cagnazzo F. (2023). “ Thrombectomy for a basilar artery occlusion in a 2-year-old child: A focus on anatomical and technical aspects.  “ Interv Neuroradiol. 2023 Apr 16:15910199231169602.  Sous presse. (IF=1,70). Cardiac and Cardiovascular Systems  (Q2).

Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B.  (2023). “ Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: a French real-life observational study.  “ Eur J Neurol. 2023 Sep;30(9):2828-2837 (IF=5,10). Clinical Neurology (Q1); Neurosciences (Q1).

Vaché C, Cubedo N, Mansard L, Sarniguet J, Baux D, Faugère V, Baudoin C, Moclyn M, Touraine R, Lina-Granade G, Cossée M, Bergougnoux A, Kalatzis V, Rossel M, Roux AF. (2023). “ Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.  “ Eur J Hum Genet. 2023 Jul;31(7):834-840. (IF=5,20). Biochemistry and Molecular Biology (Q2); Genetics and Heredity (Q2). 

Verebi C, Gravrand V, Pacault M, Audrezet MP, Couque N, Vincent MC, Leturcq F, Tsatsaris V, Bienvenu T, Nectoux J. (2023). “ [Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook].  “ Gynecol Obstet Fertil Senol. 2023 Oct;51(10):463-470. (IF=0,8). Obstetrcis and Gynecology (Q4).

Yauy K, Van Goethem C, Pégeot H, Baux D, Guignard T, Thèze C, Ardouin O, Roux AF, Koenig M, Bergougnoux A, Cossée M. (2023). ”Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.  ” Int J Mol Sci. 2023 Apr 15;24(8):7330.  (IF=5,60). Biochemistry and Molecular Biology Q1) ; Chemistry, Multidisciplinary  (Q2).

Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK (2022). “ Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.  “ Nat Commun. 2022 Apr 5;13(1):1822. (IF=16,60). Multidisciplinary Sciences (Q1).

Althubaiti F, Guiomard C, Rivier F, Meyer P, Leboucq N. (2022). “Prognostic value of contrast-enhanced MRI in Guillain-Barré syndrome in children. “ Arch Pediatr. 2022 Apr;29(3):230-235.. (IF=1,80). Pediatrics ( Q4).

Arbogast S, Kotzur H, Frank C, Compagnone N, Sutra T, Pillard F, Pietri S, Hmada N, AbbaMoussa DM, Bride J, Franconnet S, Mercier J, Cristol JP, Dabauvalle MC, Laoudj-chenivesse D. ” ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy.  ”Redox Biology, 2022 Oct;56:102450. (IF=11,40). Biochemistry and Molecular Biology (Q1).

Baudou E, Cances C, Magdelaine C, Latour P, Louvier UW, Juntas-Morales R, Cintas P, Rivier F. (2022). “ Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.  “ Neuropediatrics. 2022 Jun;53(3):182-187. (IF=1,40). Clinical Neurology ( Q4). Pediatrics  (Q3).

Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan-Cadars M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC.  (2022). “RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.  “Brain. 2022 Nov 21;145(11):3770-3775.. (IF=14,50). Clinical Neurology (Q1); Neursciences (Q1).

Benquey T, Pion E, Cossée M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia AS, Magdelaine C, Francou B, Guiochon-Mantel A, Malinge MC, Leguern E, Lévy N, Attarian S, Latour P, Bonello-Palot N. (2022). “A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.  “ Genes (Basel). 2022 Feb 9;13(2):318. (IF=3,50). Genetics and Heradity (Q2)

Brun JF, Myzia J, Varlet-Marie E, , Mercier J, Raynaud de Mauverger E (2022). ”Extended physiological functions for erythrocyte deformability and aggregation beyond regulation of oxygen delivery?”Series on Biomechanics, Vol.36 No.1 (2022), 7-20 (IF=0,20). Biochemical Engineering (Q4); Biophysics (Q4); Biotechnology (Q4); Orthopedics and Sport Medicine (Q4).

Brun JF, Myzia J, Varlet-Marie E, Mercier J, Raynaud de Mauverger E, (2022).  ”The weight-lowering effect of low-intensity endurance training targeted at the level of maximal lipid oxidation (LIPOX max) lasts for more than 8 years, and is associated with improvements in body composition and blood pressure ”Science & Sports 37 (2022) 603—609. (IF=1,10). Sport Sciences  ( Q4)

Brun JF, Varlet-Marie E, Myzia J, Raynaud de Mauverger E and Pretorius E  (2022). “Metabolic Influences Modulating Erythrocyte Deformability and Eryptosis” Metabolites 2022 12, 4. (IF=4,10). Biochemistry (Q2); Endocrinology, Diabetes and Metabolism (Q2); Molecular Biology (Q2).

Brun JF, Myzia J, Varlet-Marie E, Raynaud de Mauverger E and Mercier J (2022). “Beyond the Calorie Paradigm: Taking into Account in Practice the Balance of Fat and Carbohydrate Oxidation during Exercise?  “Nutrients 2022, 14, 1605. (IF=5,90). Nutrition and Dietetics  (Q1).

Bughin F, Kovacsik H, Jaussent I, Solecki K, Aguilhon S, Vanoverschelde J, Zarqane H, Mercier J, Gouzi F, Roubille F, Dauvilliers Y. (2022). “ Impact of Obstructive Sleep Apnea Syndrome on Ventricular Remodeling after Acute Myocardial Infarction: A Proof-of-Concept Study. “  . J Clin Med. 2022 Oct 27;11(21):6341. (IF=3,90); Medicine, General and Internal (Q1).

Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells CF, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve E. (2022). “Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.  “ Ultrasound Obstet Gynecol. 2022 Dec;60(6):805-811. (IF=7,10). Acoustics (Q1) ; Obstetrics and Gynecology (Q1).

Dardari D, Schuldiner S, Julien CA, Ha Van G, M’Bemba J, Bourgeon M, Sultan A, Lepeut M, Grandperret-Vauthier S, Baudoux F, François M, Clavel S, Martini J, Vouillarmet J, Michon P, Moret M, Monnier A, Chingan-Martino V, Rigalleau V, Dumont I, Kessler L, Stifii I, Bouillet B, Bonnin P, Lemoine A, Da Costa Correia E, Faraill MMB, Muller M, Cazaubiel M, Zemmache MZ, Hartemann A.  (2022). “Trends in the relation between hyperglycemia correction and active Charcot neuroarthropathy: results from the EPICHAR study.  “ BMJ Open Diabetes Res Care. 2022 Sep;10(5):e002380. (IF=4,10). Endocrinology, Diabetes and Metabolism (Q1).

Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease avec comme collaborateur Rivier F. (2022. “ Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. “ Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. (IF=36,40). Pediatrics (Q1).

François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, Espil C, Fluss J, de Lonlay P, Kern I, Lenaers G, Munnich A, Meyer P, Spitz MA, Torre S, Doummar D, Touati G, Leboucq N, Roubertie A. (2022) “Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. “ Eur J Neurol. 2022 Nov;29(11):3229-3242.  (IF=5,10). Clinical Neurology (Q1); Neurosciences (Q1).

Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S.  (2022). “GM2 gangliosidosis AB variant: first case of late onset and review of the literature.  “Neurol Sci. 2022 Nov;43(11):6517-6527 (IF=3,30). Clinical Neurology  (Q3) ; Neurosciences (Q3).

Grillet PE, Badiou S, Lambert K, Sutra T, Plawecki M, Raynaud de Mauverger E, Brun JF, Mercier J, Gouzi F, Cristol JP. (2022). “Biomarkers of Redox Balance Adjusted to Exercise Intensity as a Useful Tool to Identify Patients at Risk of Muscle Disease through Exercise Test.  “ Nutrients. 2022 Apr 29;14(9):1886. (IF=5,90. Nutrition and Dietetics  (Q1).

Lanot N, Vincenti M, Abassi H, Bredy C, Agullo A, Gamon L, Mura T, Lavastre K, De La Villeon G, Barrea C, Meyer P, Rivier F, Meli AC, Fauconnier J, Cazorla O, Lacampagne A, Amedro P. (2022). “Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy.  “ Int J Cardiovasc Imaging. 2022 Jan;38(1):79-89. (IF=2,32). Cardiac and Cardiovascular Systems (Q3) ; Radiology, Nuclear Medicine and Medical Imaging (Q3) .

Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossée M, Koenig M, Alix-Panabière C, Guissart C, Vincent MC (2022). “Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.  “. Sci Rep. 2022 Jul 6;12(1):11423. (IF=4,60). Multidisciplinary Sciences  (Q1).

Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Abi Wardé MT, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen consortium, de Bellescize J, Villard L, de Saint Martin A, Milh M (2022). “Molecular and clinical description of patients with GABA_A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): a cohort study, review of literature, and genotype-phenotype correlations.  “ . Epilepsia. 2022 Oct;63(10):2519-2533.  (IF=5,60). Clinical Neurology (Q1).

Mafla AC, Benavides RJ, Meyer P, Giraudeau N, Schwendicke F  (2022). “Association of children’s toothbrushing and fine motor skills: a cross-sectional study.  “ Braz Oral Res. 2022 Jul 11;36:e103. (IF=2,50). Dentistry, Oral Surgery anf Medicine (Q2).

Mansard L, Vaché C, Bianchi J, Baudoin C, Perthus I, Isidor B, Blanchet C, Baux D, Koenig M, Kalatzis V, Roux AF. (2022). “.Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss. “. Diagnostics (Basel). 2022 Jan 15;12(1):207. (IF=3,60). Medicine General and Internal (Q1).

Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network (avec comme collaborateurs Kohttps://pubmed.ncbi.nlm.nih.gov/34983064/enig M), Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G (2022). ”Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. ” Brain. 2022 Apr 29;145(3):1029-1037 (IF=14,50). Clinical Neurology (Q1); Neursciences (Q1).

Myzia J, Brun JF,  Varlet-Marie E, Bui G, Raynaud de Mauverger E, Mercier J.  (2022). ”Endurance training minimizing carbohydrate oxidation by targeting the optimal level of fat/carbohydrate oxidation ratio (OLORFOX)? ” Science & Sports 37 (2022) 624—628  (IF=1,10). Sport Sciences  ( Q4).

Perrin A, Van Goethem C, Thèze C, Puechberty J, Guignard T, Lecardonnel B, Lacourt D, Métay C, Isapof A, Whalen S, Ferreiro A, Arne-Bes MC, Quijano-Roy S, Nectoux J, Leturcq F, Richard P, Larrieux M, Bergougnoux A, Pellestor F, Koenig M, Cossée M. (2022). “Long reads sequencing strategy to localize variants in TTN repeated domains.  “ J Mol Diagn. 2022 Jul;24(7):719-726. (IF=5,34). Pathology (Q1).

Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY (2022). “Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort. “ .J Neurol. 2022 May;269(5):2414-2429.. (IF=5,60). Clinical Neurology (Q1).

Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. (avec parmi les collaborateurs Rivier F) (2022). “ Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy. “   Orphanet J Rare Dis. 2022 Mar 2;17(1):96. (IF=3,70). Medicine, Research and Experimental (Q2);  Genetics and Heredity  (Q2).

Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF  (2021). “Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss. “ Eur J Hum Genet. 2022 Jan;30(1):34-41. (IF=5,20). Biochemistry and Molecular Biology (Q2); Genetics and Heredity (Q2).

Valle SU, Souvannanorath S, Leboucq N, Haouy S, Rivier F, Roubertie A, Meyer P (2022). “Monocentric retrospective clinical outcome in a group of 13 patients with opsoclonus myoclonus syndrome, proposal of diagnostic algorithm and review of the …“ – European Journal of Paediatric Neurology Volume 40, September 2022, Pages 18-27 (IF=3,10). Clinical Neurology (Q3);  Pediatrics (Q2).

Varlet-Marie E,. Brun J.-F, Myzia J., Bui G., Chérif A., Javernaud E, Hammoudi L, Mercier J, Raynaud de Mauverge E. (2022). “Exercise targeted on maximal lipidoxidation has long-term weight-reducingeffects but improves insulin secretion andlipid oxidation before reducing fat mass“Science & Sports Volume 37, Issue 2, April 2022, Pages 101-112 (IF=1,10). Sport Sciences  ( Q4).

Vecten M, Pion E, Bartoli M, Morales RJ, Sternberg D, Rendu J, Stojkovic T, Bourdain CA, Métay C, Richard I, Cerino M, Milh M, Campana-Salort E, Gorokhova S, Levy N, Latypova X, Bonne G, Biancalana V, Petit F, Molon A, Perrin A, Laforêt P, Attarian S, Krahn M, Cossée M.  (2022). “Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. “  Int J Mol Sci. 2022 Jul 31;23(15):8506.(IF=5,60). Biochemistry and Molecular Biology Q1) ; Chemistry, Multidisciplinary  (Q2).

Achkar El CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE; GABRB2 Working Group. (avec Meyer Pierre comme collaborateur) (2021).”Characterization of the GABRB2-Associated Neurodevelopmental Disorders.  ” Ann Neurol. 2021 Mar;89(3):573-586. (IF=11,27). Clinical Neurology (Q1); Neurosciences (Q1).

Bar C, Breuillard D, Kuchenbuch M, Jennesson M, Le Guyader G, Isnard H, Rolland A, Doummar D, Fluss J, Afenjar A, Berquin P, De Saint Martin A, Dupont S, Goldenberg A, Lederer D, Lesca G, Maurey H, Meyer P, Mignot C, Nica A, Odent S, Poisson A, Scalais E, Sekhara T, Vrielynck P, Barcia G, Nabbout R (2021). “Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy. “ Epilepsy Behav. 2022 Jan;126:108471. (IF=3,34). Behaviorial Sciences (Q2); Clinical Neurology (Q1).

Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF. (2021). “MobiDetails: online DNA variants interpretation.  “ Eur J Hum Genet. 2021 Feb;29(2):356-360. (IF=5,35). Biochemistry and Molecular Biology (Q2); Genetics and Heredity (Q2).

Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A.. (2021). “New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.  “Genet Med. 2021 Mar;23(3):543-554. (IF=8,86) Genetics and Heredity (Q1).

Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M .  (2021). “High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families. “  Genet Med. 2021 Nov;23(11):2160-2170.. (IF=8,86). Genetics and Heredity  (Q1).

Biotteau M, Tournay E, Baudou E, Destarac S, Iannuzzi S, Faure-Marie N, Castelnau P, Schweitzer E, Rodriguez D, Kemlin I, Dorison N, Rivier F, Carneiro M, Preclaire E, Barbarot S, Lauwers-Cancès V, Chaix Y (2021). “Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.  “ J Child Neurol. 2021 Jul;36(8):625-634. (IF=2,36). Clinical Neurology (Q4) ; Pediatrics (Q3).

Bousquet J, Anto JM, Bachert C, Haahtela T, Zuberbier T, Czarlewski W, Bedbrook A, Bosnic-Anticevich S, Walter Canonica G, Cardona V, ElisioCosta, Cruz AA, Erhola M, Fokkens WJ, Fonseca JA, Illario M, CarlosIvancevich J, Jutel M, Klimek L, PiotrKuna, Kvedariene V, Le L, Larenas-Linnemann D, Laune D, Lourenço OM, Melén E, Mullol J, Niedoszytko M, Odemyr M, Okamoto Y, Papadopoulos NG, Patella V, Pfaar O, Pham-Thi N, Rolland C, Samolinski B, Sheikh A, Sofiev M, SuppliUlrik C, Todo-Bom A, Tomazic PV, Toppila-Salmi S, Tsiligianni I, Valiulis A, Valovirta E, Ventura MT, Walker S, Williams S, Yorgancioglu A, Agache I, Akdis CA, Almeida R, Ansotegui IJ, Annesi-Maesano I, Arnavielhe S, Basagaña X, Bateman E, Bédard A, Bedolla-Barajas M, Becker S, Bennoor KS, Benveniste S, Bergmann KC, Bewick M, Bialek S, Billo N, Bindslev-Jensen C, Bjermer L, Blain H, Bonini M, Bonniaud P, Bosse I, Bouchard J, Boulet LP, Bourret R, Boussery K, Braido F, Briedis V, Briggs A, Brightling CE, JanBrozek, Brusselle G, Brussino L, Buhl R, Buonaiuto R, Calderon MA, Camargos P, Camuzat T, Caraballo L, Carriazo AM, Carr W, Cartier C, Casale T, Cecchi L, Cepeda Sarabia AM, Chavannes N, Chkhartishvili E, Chu DK, Cingi C, Correia de Sousa J, Costa DJ, Courbis AL, Custovic A, Cvetkosvki B, D’Amato G, da Silva J, Dantas C, Dokic D, Dauvilliers Y, De Feo G, De Vries G, Devillier P, Di Capua S, Dray G, Dubakiene R, Durham SR, Dykewicz M, Ebisawa M, Gaga M, El-Gamal Y, Heffler E, Emuzyte R, Farrell J, Fauquert JL, Fiocchi A, Fink-Wagner A, Fontaine JF, Fuentes Perez JM, Gemicioğlu B, Gamkrelidze A, Garcia-Aymerich J, Gevaert P, Gomez M, González Diaz S, Gotua M, Guldemond NA, Guzmán MA, Hajjam J, Huerta Villalobos YR, Humbert M, Iaccarino G, Ierodiakonou D, TomohisaIinuma, Jassem E, Joos G, Jung KS, Kaidashev I, Kalayci O, Kardas P, Keil T, Khaitov M, Khaltaev N, Kleine-Tebbe J, Kouznetsov R, Kowalski ML, Kritikos V, Kull I, La Grutta S, Leonardini L, Ljungberg H, Lieberman P, Lipworth B, Lodrup Carlsen KC, Lopes-Pereira C, Loureiro CC, Louis R, Mair A, Mahboub B, Makris M, Malva J, Manning P, Marshall GD, Masjedi MR, Maspero JF, Carreiro-Martins P, Makela M, Mathieu-Dupas E, Maurer M, De Manuel Keenoy E, Melo-Gomes E, Meltzer EO, Menditto E, Mercier J, Micheli Y, Miculinic N, Mihaltan F, Milenkovic B, Mitsias D, Moda G, Mogica-Martinez MD, Mohammad Y, Montefort S, Monti R, Morais-Almeida M, Mösges R, Münter L, Muraro A, Murray R, Naclerio R, Napoli L, Namazova-Baranova L, Neffen H, Nekam K, Neou A, Nordlund B, Novellino E, Nyembue D, O’Hehir R, Ohta K, Okubo K, Onorato GL, Ouedraogo S, Palamarchuk J, Pali-Schöll I, Panzner P, Park HS, Passalacqua G, Pépin JL, Paulino E, Phillips J, Picard R, Pinnock H, Plavec D, Popov TA, Portejoie F, Price D, Prokopakis EP, Psarros F, Pugin B, Puggioni F, Quinones-Delgado P, Raciborski F, Rajabian-Söderlund R, Regateiro FS, Reitsma S, Rivero-Yeverino D, Roberts G, Roche N, Rodriguez-Zagal E, Rolland C, Roller-Wirnsberger RE, Rosario N, Romano A, Rottem M, Ryan D, Salimäki J, Sanchez-Borges MM, Sastre J, Scadding GK, Scheire S, Schmid-Grendelmeier P, Schünemann HJ, Serpa F, Shamji M, Sisul JC, Sofiev M, Solé D, Somekh D, Sooronbaev T, Sova M, Spertini F, Spranger O, Stellato C, Stelmach R, Thibaudon M, To T, MondherToumi, Usmani O, Valero A, Valenta R, Valentin-Rostan M, van der Kleij R, Van Eerd M, Vandenplas O, Vasankari T, Vaz Carneiro A, Vezzani G, Viart F, Viegi G, Wallace D, Wagenmann M, Wang Y, Waserman S, Wickman M, Williams DM, Wong G, Wroczynski P, Yiallouros PK, Yusuf OM, Zar HJ, Zeng S, Zernotti ME, Zhang L, Zhong NS, Zidarn M. (2021). “ARIA digital anamorphosis: Digital transformation of health and care in airway diseases from research to practice. “ Allergy. 2021 Jan;76(1):168-190.. (IF=14,71). Allergy (Q1); Immunology (Q1.

Bughin F, Jaussent I, Ayoub B, Aguilhon S, Chapet N, Soltani S, Mercier J, Dauvilliers Y, Roubille F. (2021). “Prognostic Impact of Sleep Patterns and Related-Drugs in Patients with Heart Failure.  “ J Clin Med. 2021 Nov 18;10(22):5387.  (IF=4,96). Medicine, General and Internal (Q1).

Bughin F, Bui G, Ayoub B, Blervaque L, Saey D, Avignon A, Brun JF, Molinari N, Pomies P, Mercier J, Gouzi F, Hayot M  (2021).”Impact of a Mobile Telerehabilitation Solution on Metabolic Health Outcomes and Rehabilitation Adherence in Patients With Obesity: Randomized Controlled Trial.”.JMIR Mhealth Uhealth. 2021 Dec 6;9(12):e28242.(IF=4,97). Health Care Sciences and Services (Q1) ; Medical Informatics (Q2).

Cobo-Calvo A, Ruiz A, Rollot F, Arrambide G, Deschamps R, Maillart E, Papeix C, Audoin B, Lépine AF, Maurey H, Zephir H, Biotti D, Ciron J, Durand-Dubief F, Collongues N, Ayrignac X, Labauge P, Meyer P, Thouvenot E, Bourre B, Montcuquet A, Cohen M, Horello P, Tintoré M, De Seze J, Vukusic S, Deiva K, Marignier R; NOMADMUS, KidBioSEP, and OFSEP study groups. (2021). “Clinical Features and Risk of Relapse in Children and Adults with Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.  “ Ann Neurol. 2021 Jan;89(1):30-41. (IF=11,27). Clinical Neurology (Q1); Neurosciences (Q1).

Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. (2021). “Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. “  N Engl J Med. 2021 Jun 24;384(25):2406-2417. (IF=176,08). Medicine, General and Internal (Q1).

Cohen E, Bonne G, Rivier F, Hamroun D (2021). “The 2022 version of the gene table of neuromuscular disorders (nuclear genome). “ Neuromuscular Disorders, 2021 Dec;31(12):1313-1357. (IF=3,54). Clinical Neurology (Q2) ; Neurosciences (Q2).

Delpont M, Coulet B, Cottalorda J, Ramdani S, Lagacé JC, Mercier J, Laffont I, Bernard PL, Lambert K  (2021). “Weakness of shoulder rotator muscles in children with brachial plexus palsy under age 5 years: not only in lateral rotation.  “. Ann Phys Rehabil Med. 2021 Nov 15;65(3):101572. (IF=5,39). Rehabilitation (Q1).

Filipe A, Chernorudskiy A, Arbogast S, Varone E, Villar-Quiles RN, Pozzer D, Moulin M, Fumagalli S, Cabet E, Dudhal S, De Simoni MG, Denis R, Vadrot N, Dill C, Giovarelli M, Szweda L, De Palma C, Pinton P, Giorgi C, Viscomi C, Clementi E, Missiroli S, Boncompagni S, Zito E, Ferreiro A (2021). Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy. “Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.  “Cell Death Differ. 2021 Jan;28(1):123-138.. (IF=12,08).  Biochemistry and Molecular Biology (Q1) ; Cell Biology” (Q1).

François-Heude MC, Walther-Louvier U, C Espil-Taris C, Beze-Beyrie P, Rivier F, Baudou  E, Uro-Coste E, Rigau V ,Martin Negrier ML ,Rendu J  JuntasMorales R, Pégeot H,Thèze C, Lacourt D, Coville AC, Cossée M Cances C. (2021). Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress European Journal of Paediatric Neurology 2021 Feb 17;31:78-87. (IF=3,69). Clinical Neurology (Q3); Pediatrics (Q2).

Géraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Fauré J, Koenig M, Juntas Morales R, Lacène E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C (2021). “Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.  “ . J Med Genet. 2021 Sep;58(9):602-608.. (IF=5,95). Genetics and Heredity (Q1).

Gueguen N, Piarroux J, Sarzi E, Benkirane M, Manes G, Delettre C, Amedro P, Leboucq N, Koenig M, Meyer P, Meunier I, Reynier P, Lenaers G, Roubertie A.  (2021). “Optic neuropathy linked to ACAD9 pathogenic variants: a potentially riboflavin-responsive disorder?  “ Mitochondrion. 2021 May 20;59:169-174.. (IF=4,16). Cell Biology (Q2) ; Genetics and Heredity (Q2).

Hafner P, Schmidt S, Schädelin S, Rippert P, et al., and , MFM registry Study Group avec comme collaborateur Rivier F, (2021). “Implementation of Motor Function Measure score percentile curves – Predicting motor function loss in Duchenne muscular dystrophy. “ European Journal of Paediatric Neurology, 2021 Dec 14;36:78-83 (IF=3,69). Clinical Neurology (Q3);  Pediatrics (Q2).

Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U,  Cintas P, Cances C, Espil C, Theze C Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Urocoste E, Ame-Bes MC, Martin Negier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossee M  (2021). “An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort …“ Genes, 2021, 12(8), 1199. (IF=4,14). Genetics and Heradity (Q2)

Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossée M.  (2021) “An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families. “ Genes (Basel). 2021 Jul 31;12(8):1199.  (IF=4,14). Genetics and Heradity (Q2)

Majorel-Beraud C, Baudou E, Walther-Louvier U, Espil-Taris C, Beze-Beyrie P, Cintas P, Rivier F, Cances C.  (2021). “Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot-Marie-Tooth’s Disease Type 2A.  “ Neuropediatrics. 2021 Oct;52(5):351-357. (IF=1,70). Clinical Neurology ( Q4). Pediatrics  (Q3). 

Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF. (2021). “The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A. “.Int J Mol Sci. 2021 Dec 10;22(24):13294.(IF=6,21). Biochemistry and Molecular Biology Q1) ; Chemistry, Multidisciplinary  (Q2).

Meyer P, Notarnicola C, Meli AC, Matecki S, Hugon G, Salvador J, Khalil M, Féasson L, Cances C, Cottalorda J, Desguerre I, Cuisset JM, Sabouraud P, Lacampagne A, Chevassus H, Rivier F, Carnac G (2021). “Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients. “ Int J Mol Sci. 2021 Nov 30;22(23):12985. (IF=6,21). Biochemistry and Molecular Biology Q1) ; Chemistry, Multidisciplinary  (Q2).

Montaut S, Diedhiou N, Fahrer P, Marelli C, Lhermitte B, Robelin L, Vincent MC, Corti L, Taieb G, Gebus O, Rudolf G, Tarabeux J, Dondaine N, Canuet M, Almeras M, Benkirane M, Larrieu L, Chanson JB, Nadaj-Pakleza A, Echaniz-Laguna A, Cauquil C, Lannes B, Chelly J, Anheim M, Puccio H, Tranchant C. (2021). “Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.  “ J Neurol. 2021 Sep;268(9):3337-3343. IF=6,68). Clinical Neurology (Q1).

Mounier S, Gavotto A, Tenenbaum J, Meyer P, Fila M, Baleine J  (2021). “Hemolytic uremic syndrome related to Shiga-like toxin-producing Escherichia coli with encephalitis hiding a human herpesvirus-6 infection: a case report.  “  J Med Case Rep. 2021 May 25;15(1):300. (IF=0,88). Medical (miscellaneaous) (Q3). 

Perrin A, Juntas Morales R, Chapon F, Thèze C, Lacourt D, Pégeot H, Uro-Coste E, Giovannini D, Leboucq N, Mallaret M, Lagrange E, Rigau V, Gaudon K, Richard P, Koenig M, Métay C, Cossée M. (2021). “Novel dominant distal titinopathy phenotype associated with copy number variation.  “ Ann Clin Transl Neurol. 2021 Sep;8(9):1906-1912. (IF=5,43). Clinical Neurology (Q2) ;  Neurosciences (Q2).

Pommier A, Varilh J, Bleuse S, Delétang K, Bonini J, Bergougnoux A, Brochiero E, Koenig M, Claustres M, Taulan-Cadars M (2021). “miRNA repertoires of cystic fibrosis ex vivo models highlight miR-181a and miR-101 that regulate WISP1 expression.  “ J Pathol. 2021 Feb;253(2):186-197. (IF=9,88). Oncology (Q1); Pathology (Q1).

Porcher R, Desguerre I, Amthor H, Chabrol B, Audic F, Rivier F, Isapof A, Tiffreau V, Campana-Salort E, Leturcq F, Tuffery-Giraud S, Ben Yaou R, Annane D, Amédro P, Barnerias C, Bécane HM, Béhin A, Bonnet D, Bassez G, Cossée M, de La Villéon G, Delcourte C, Fayssoil A, Fontaine B, Godart F, Guillaumont S, Jaillette E, Laforêt P, Leonard-Louis S, Lofaso F, Mayer M, Morales RJ, Meune C, Orlikowski D, Ovaert C, Prigent H, Saadi M, Sochala M, Tard C, Vaksmann G, Walther-Louvier U, Eymard B, Stojkovic T, Ravaud P, Duboc D, Wahbi K. (2021). “Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.  . “ Eur Heart J. 2021 May 21;42(20):1976-1984. (IF=35,85). Cardiac ad Cardiovascular Systems (Q1)

Ravel JM, Benkirane M, Calmels N, Marelli C, Ory-Magne F, Ewenczyk C, Halleb Y, Tison F, Lecocq C, Pische G, Casenave P, Chaussenot A, Frismand S, Tyvaert L, Larrieu L, Pointaux M, Drouot N, Bossenmeyer-Pourié C, Oussalah A, Guéant JL, Leheup B, Bonnet C, Anheim M, Tranchant C, Lambert L, Chelly J, Koenig M, Renaud M (2021). “Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia. “  J Neurol. 2021 May;268(5):1927-1937. (IF=6,68). Clinical Neurology (Q1).

Renaud M, Tranchant C, Koenig M, Anheim M  (2021). ”Reply to: « Autosomal-Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker ». ”. Mov Disord. 2021 Mar;36(3):789-790. (IF=9,70). Neurology (Q1) ; Clinical Neurology (Q1).

Souweine JS, Pasquier G, Kuster N, Rodriguez A, Patrier L, Morena M, Badia E, Raynaud F, Chalabi L, Raynal N, Ohresser I, Hayot M, Mercier J, Le Quintrec M, Gouzi F, Cristol JP. (2020). ”Dynapenia and sarcopenia in chronic haemodialysis patients: do muscle weakness and atrophy similarly influence poor outcome?  ” Nephrol Dial Transplant. 2021 Sep 27;36(10):1908-1918. (IF=7,19). Transplantation (Q1) ; Urology and Nephrology  (Q1).

Souweine JS, Gouzi F, Badia É, Pomies P, Garrigue V, Morena M, Hayot M, Mercier J, Ayoub B, Quintrec ML, Raynaud F, Cristol JP  (2021). ”Skeletal Muscle Phenotype in Patients Undergoing Long-Term Hemodialysis Awaiting Kidney Transplantation. ” .Clin J Am Soc Nephrol. 2021 Nov;16(11):1676-1685.(IF=10,67). Urology and Nephrology (Q1).

Spitz MA, Lenaers G, Charif M, Wirth T, Chelly J, Abi-Warde MT, Meyer P, Leboucq N, Schaefer E, Anheim M, Roubertie A (2021). ” Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency. ”.Neuropediatrics. 2021 Oct;52(5):410-414. (IF=1,70). Clinical Neurology ( Q4). Pediatrics  (Q3).

Valensi P, Henry P, Boccara F, Cosson E, Prevost G, Emmerich J, Ernande L, Marcadet D, Mousseaux E, Rouzet F, Sultan A, Ferrières J, Vergès B, Van Belle E  (2021)” Risk stratification and screening for coronary artery disease in asymptomatic patients with diabetes mellitus: Position paper of the French Society of Cardiology and the French-speaking Society of Diabetology.  ”  Arch Cardiovasc Dis. 2021 Feb;114(2):150-172.. (IF=3,20). Cardiac ad Cardiovascular Systems (Q2).

Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O’Leary M, O’Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A (2021). “Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. “.Brain. 2021 Oct 22;144(9):2659-2669. (IF=15,25). Clinical Neurology (Q1); Neursciences (Q1).

Ayrignac X, Goulabchand R, Jeziorski E, Rullier P, Carra-Dallière C, Lozano C, Portales P, Vincent T, Viallard JF, Menjot de Champfleur N, Rieux-Laucat F, Besnard C, Koenig M, Guissart C, Labauge P, Guilpain P. (2020). “Two neurologic facets of CTLA4-related haploinsufficiency.  “Neurol Neuroimmunol Neuroinflamm. 2020 Jun 4;7(4):e751. . (IF=8,48). Neurology (Q1), Clinical Neurology (Q1).

Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, de Villemeur TB, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. (2020). “Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. “ Hum Mutat. 2020 Jan;41(1):69-80. (IF=4,88). Genetics and Heredity (Q1).

Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R (2020). “Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.  “ Epilepsia. 2020 Nov;61(11):2461- (IF=5,86). Clinical Neurology (Q1).

Bédard A, Antó JM, Fonseca JA, Arnavielhe S, Bachert C, Bedbrook A, Bindslev-Jensen C, Bosnic-Anticevich S, Cardona V, Cruz AA, Fokkens WJ, Garcia-Aymerich J, Hellings PW, Ivancevich JC, Klimek L, Kuna P, Kvedariene V, Larenas-Linnemann D, Melén E, Monti R, Mösges R, Mullol J, Papadopoulos NG, Pham-Thi N, Samolinski B, V Tomazic P, Toppila-Salmi S, Ventura MT, Yorgancioglu A, Bousquet J, Pfaar O, Basagaña X; MASK study group(avec parmi les collaborateurs Mercier J). (2020). “Correlation between work impairment, scores of rhinitis severity and asthma using the MASK-air^® App. “ Allergy. 2020 Jul;75(7):1672-1688. (IF=13,15).  Allerg (Q1) ; Immunology (Q1).

Benarroch L, Bonne G, Rivier F, Hamroun D  (2020). “The 2021 version of the gene table of neuromuscular disorders (nuclear genome).  “ Neuromuscul Disord. 2020 Dec;30(12):1008-1048 (IF=4,30). Clinical Neurology (Q2) ; Neurosciences (Q2).

Bieth E, Nectoux J, Girardet A, Gruchy N, Mittre H, Laurans M, Guenet D, Brouard J, Gerard M. (2020). “ Genetic counseling for cystic fibrosis: A basic model with new challenges.  “. Arch Ped 2020 Feb;27 Suppl 1:eS30-eS34. (IF=0,76). Pediatrics ( Q4).

Biotteau M, Déjean S, Lelong S, Iannuzzi S, Faure-Marie N, Castelnau P, Rivier F, Lauwers-Cancès V, Baudou E, Chaix Y  (2020); “Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?  “ Front Neurol. 2020 May 5;11:368. (IF=4,00). Clinical Neurology (Q3) ; Neurosciences (Q3).

Blervaque L, Pomiès P, Rossi E, Catteau M, Blandinières A, Passerieux E, Blaquière M, Ayoub B, Molinari N, Mercier J, Perez-Martin A, Marchi N, Smadja DM, Hayot M, Gouzi F. (2020). “ COPD is deleterious for pericytes: implications during training-induced angiogenesis in skeletal muscle.  “ Am J Physiol Heart Circ Physiol. 2020 Nov 1;319(5):H1142-H1151.  (IF=4,73). Cardiac and Cardiovascular Systems (Q2); Physiology (Q1) ; Paripheral Vascular Diseases  (Q2).

Brun JF, Myzia J, Bui G, Grubka E, Karafiat M, Mercier J, Raynaud de Mauverger E. The 6-minute walk-test in type 2 diabetics predicts to some extent maximal aerobic capacity but not its training-induced improvement. Ann Musculoskelet Med, 2020, 4, 003-009.

Bughin F, Desplan M, Mestejanot C, Picot MC, Roubille F, Jaffuel D, Mercier J, Jaussent I, Dauvilliers Y.  (2020). “Effects of an individualized exercise training program on severity markers of obstructive sleep apnea syndrome: a randomised controlled trial.  “ Sleep Med. 2020 Feb 18;70:33-42.  (IF=3,49). Clinical Neurology (Q2).

Catteau M, Gouzi F, Blervaque L, Passerieux E, Blaquière M, Ayoub B, Bughin F, Mercier J, Hayot M, Pomiès P  (2020). ”Effects of a human microenvironment on the differentiation of human myoblasts.  ” Biochem Biophys Res Commun. 2020 May 14;525(4):968-973. (IF=3,57). Biochemistry and Molecular Biology (Q3); Biophysics” (Q2).

Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabières C, Guissart C. (2020). “Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.  “ Sci Rep. 2020 Jun 17;10(1):9861. (IF=4,38). Multidisciplinary Sciences  (Q1).

Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Juntas Morales R, Tard C, Leturcq F, Stojkovic T, Bonello-Palot N, Gorokhova S, Mortreux J, Maues De Paula A, Lévy N, Pouget J, Cossée M, Bartoli M, Krahn M, Attarian S (2020). “Novel CAPN3 variant associated with an autosomal dominant calpainopathy. “ Neuropathol Appl Neurobiol. 2020 Oct;46(6):564-578. . (IF=8,09). Clinical Neurology (Q1) ; Neurosciences (Q1) ; Pathology (Q1).

Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, Ferlini A (2020). “EMQN best practice guidelines for genetic testing in dystrophinopathies.  “ Eur J Hum Genet. 2020 Sep;28(9):1141-1159. . (IF=4,25). Biochemistry and Molecular Biology (Q2); Genetics and Heredity (Q2).

Gayrard N, Muyor K, Notarnicola C, Duranton F, Jover B, Argiles A. (2020).” Optimisation of cell and ex vivo culture conditions to study vascular calcification   PLoS One 2020. 15 (3), e0230201 (IF=3,24). MultidisciplinarySciences (Q1).

Guissart C, Harrison AN, Benkirane M, Oncel I, Arslan EA, Chassevent AK, Baraῆano K, Larrieu L, Iascone M, Tenconi R, Claustres M, Eroglu-Ertugrul N, Calvas P, Topaloglu H, Molday RS, Koenig M. (2020). “ATP8A2-related disorders as recessive cerebellar ataxia.  “ J Neurol. 2020 Jan;267(1):203-213.  (IF=4,85). Clinical Neurology (Q1).

Hammoudi L., Brun J.F., Noirez P., Bui C., Chevalier C., Gimet F., Mercier J., Raynaud de Mauverger E. Effects of 2 years endurance training targeted at the level of maximal lipid oxidation on body composition, Science & Sports, 2020, 35, 350-357. (IF= 0,79). Sport Sciences( Q4).

Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L (2022). “New insights into CC2D2A-related Joubert syndrome. . J Med Genet. . 2022 Nov 1: sous presse. . (IF=5,95). Genetics and Heredity (Q1)

Hully M, Barmerias C, Chabalier D, Le guen S, Grema V, Deladriere E, Vanhulle C, Cuisset JM, Chabrol B, Cances C, Vuillerot C, Espil C, Mayer M, Nouges MC, Sabouraud P, Lefranc J, Laugel V, Rivier F, Louvier UW, Durigneux J, Napui S, Sarret C, Renouil M, Maurel A, Viallard ML, Desguerre I. (2020).” Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents’ Reports ” Front Pediatr 2020 Feb 18;8:4. (IF=3,42). Pediatrics  (Q2).

Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium.(avec comme collaborateurs Meyer P, F. Rivier) (2020). “Cognitive impairment in children with CACNA1A mutations.  “ Dev Med Child Neurol. 2020 Mar;62(3):330-337. (IF=5,45). Clinical  Neurology (Q2) ; Pediatrics ” (Q1).

Lorea CF, Tenório RB, Koenig M, Huebner A, Koehler K, Devos D, Guissart C, Saute JAM (2020). “Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.  “Cerebellum. 2020 Jun;19(3):465-468. . (IF=3,85). Neurosciences (Q2).

Marelli C, Badiou S, Genestet S, Larrieu L, Damier P, Camu W, Planes M, Koenig M, Guissart C. (2020). “Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.  “ Neurol Sci. 2020 Jul;41(7):1931-1933.(IF=3,31). Clinical Neurology (Q3) ;  Neurosciences  (Q3).

Maurin N, Rousseau R, Trzpil W, Aoust G, Hayot M, Mercier J, Bahriz M, Gouzi F, Vicet A. (2020). “ First clinical evaluation of a quartz enhanced photo-acoustic CO sensor for human breath analysis “ Sensors and Actuators B chemical Volume 319, 15 September 2020, 128247.(IF= 7,46).

Miro J, Bougé AL, Murauer E, Beyne E, Da Cunha D, Claustres M, Koenig M, Tuffery-Giraud S (2020). “First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.  “ Int J Mol Sci. 2020 Oct 21;21(20):7803. . (IF=5,92). Biochemistry and Molecular Biology (Q1) ; Chemistry, Multidisciplinary  (Q2).

Mondesert E, Roubertie A, Girard M, Leboucq N, Baud C, Cuntz D, Cristol JP, Rivier F, Cambonie G, Leydet J, Badiou S.  (2020). “Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report.  “ Ann Biol Clin (Paris).  2020 Aug 1;78(4):441-445. (IF=0,46). Medical Laboratory Technology (Q4); Medicine, Research and Experimental (Q4).

Nguyen Y, Sigaux J, Letarouilly JG, Sanchez P, Czernichow S, Flipo RM, Soubrier M, Semerano L, Seror R, Sellam J, Daïen C.  (2020). “Efficacy of Oral Vitamin Supplementation in Inflammatory Rheumatic Disorders: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.  “ Nutrients. 2020 Dec 30;13(1):E107.  (IF=5,72). Nutrition and Dietetics  (Q1).

Pappalardo P, Benoist JF, Bax BE, Carra-Dallière C, Marelli C, Levene M, Begue L, Rolland A, Flori N, Rivier F, Blanchet C, Munnich A, Altwegg R, Meyer P, Roubertie A. (2020). “Pregnancy in MNGIE: a clinical and metabolic honeymoon.  “ Ann Clin Transl Neurol. 2020 Nov 7;7(12):2484-2488. (IF=4,51). Clinical Neurology (Q2) ; Neurosciences (Q2).

Passarelli C, Selvatici R, Carrieri A, Di Raimo FR, Falzarano MS, Fortunato F, Rossi R, Straub V, Bushby K, Reza M, Zharaieva I, D’Amico A, Bertini E, Merlini L, Sabatelli P, Borgiani P, Novelli G, Messina S, Pane M, Mercuri E, Claustres M, Tuffery-Giraud S, Aartsma-Rus A, Spitali P, T’Hoen PAC, Lochmüller H, Strandberg K, Al-Khalili C, Kotelnikova E, Lebowitz M, Schwartz E, Muntoni F, Scapoli C, Ferlini A. (2020). “Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.  “ Front Genet. 2020 Jul 3;11:605.  (IF=4,60). Genetics and Heredity (Q2).

Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. (2020). “The genomic and clinical landscape of fetal akinesia. “ Genet Med. 2020 Mar; 22(3):511-523, and, Genet Med. 2020 Aug; 22(8):1426-1428. (IF=8,82). Genetics and Heredity (Q1).

Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, Thèze C, Lacourt D, Pégeot H, Zenagui R, Uro-Coste E, Leboucq N, Malfatti E, Delaby C, Lehmann S, Rigau V, Koenig M, Cossée M. (2020). “The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies. “ Neuromuscul Disord. 2020 Nov;30(11):877-887.. (IF=4,30). Clinical Neurology (Q2) ; Neurosciences (Q2).

Perrin A, Metay C, Villanova M, Carlier RY, Pegoraro E, Juntas Morales R, Stojkovic T, Richard I, Richard P, Romero NB, Granzier H, Koenig M, Malfatti E, Cossée M. (2020). “A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.  “Ann Clin Transl Neurol. 2020 May;7(5):846-854. (IF=4,51). Clinical Neurology (Q2);  Neurosciences (Q2).

Piarroux J,  Riant F, Humbertclaude V, Remerand G, Hadjadi J, Rejou F, Coubes C, Pinson L, Meyer P, Roubertie A. (2020). “FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9“ Ann Clin Transl Neurol 2020 Apr;7(4):565-572. (IF=4,51).Clinical Neurology (Q1); Neurosciences (Q1).

Pomiès P , Catteau M, Passerieux E, Blervaque L, Ayoub B, Mercier J, Gouzi F, Hayot M… – (2020)  In vitro electrostimulation reveals a lack of muscle adaptation in myotubes from COPD patients Eur Respir J 2020 56: 4658 (IF=16,67). Respiratory System (Q1).

Ranisavljevic N, Hess M, Castelli C, Willems M, Ferrieres-Hoa A, Girardet A, Anahory T. (2020). “Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?  “ J Assist Reprod Genet 37:1675-83  (IF=3,41). Genetics and Heredity (Q3 ; Obstetrics and Gynecology (Q2) ; Reproductive Biology (Q2).

Renaud M, Tranchant C, Koenig M, Anheim M. (2020). “Autosomal Recessive Cerebellar Ataxias With Elevated alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.  “ Mov Disord. 2020 Dec;35(12):2139-2149.. (IF=10,34). Neurology (Q1), Clinical Neurology (Q1)

Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergen L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network (2020). “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. “  Genet Med. 2020 Nov;22(11):1851-1862. . (IF=8,82). Genetics and Heredity  (Q1).

Sasorith S, Baux D, Bergougnoux A, Paulet D, Lahure A, Bareil C, Taulan-Cadars M, Roux AF, Koenig M, Claustres M, Raynal C (2020). “The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders. “ Hum Mutat. 2020 Feb;41(2):375-386. . (IF=4,88). Genetics and Heredity (Q1)

Souidi M, Amédro P, Meyer P, Desprat R, Lemaître JM, Rivier F, Lacampagne A, Meli AC (2020). ”Generation of three Duchenne Muscular Dystrophy patient-specific induced pluripotent stem cell lines DMD_YoTaz_PhyMedEXp, DMD_RaPer_PhyMedEXp … ” Stem Cell Research, 2020. Nov 19;49:102094. (IF=2,02). Biotecnology and Applied Microbiology (Q1) ; Cell and Time engenneering (Q2) ; Cell Biology ( Q2).

Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators, Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, ‘t Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. (2020). “TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.  “ Eur J Hum Genet. 2020 Jun;28(6):815-825.  (IF=4,25). Biochemistry and Molecular Biology (Q2); Genetics and Heredity (Q2).

Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M. (2020). “Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.  “Ann Neurol. 2020 Aug;88(2):251-263. . (IF=10,42). Clinical Neurology (Q1); Neurosciences (Q1).

Vaché C, Puechberty J, Faugère V, Darmaisin F, Liquori A, Baux D, Blanchet C, Garcia-Garcia G, Meunier I, Pellestor F, Koenig M, Roux AF (2020). “A 4.6 Mb Inversion Leading to PCDH15–LINC00844 and BICC1–PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.  “ Front Genet. 2020 Jul 2;11:623. (IF=4,60). Genetics and Heredity (Q2).

Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. (2020). “ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.  “ Ann Neurol. 2020 Feb;87(2):217-232. (IF=10,42). Clinical Neurology (Q1); Neurosciences (Q1).

Waldrop MA, Yaou RB, Lucas KK, Martin AS, O’Rourke E; FILNEMUS, Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM . (2020). “Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review.  “ J Neuromuscul Dis. 2020;7(3):217-229. . (IS=4,31). Neurology (Q2); Clinical Neurology (Q2).