Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation Stimuli.

Autor: Fransson J; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Bachelin C; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Ichou F; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Guillot-Noël L; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Ponnaiah M; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Gloaguen A; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Maillart E; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Stankoff B; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Tenenhaus A; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Fontaine B; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Mochel F; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Louapre C; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere., Zujovic V; From the Sorbonne Université (J.F., C.B., L.G.-N., E.M., A.T., F.M., C.L., V.Z.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière Univ. Hosp., DMU Neuroscience 6; Inst. of Cardiometabolism and Nutrition (F.I., M.P.), Sorbonne-universités-Upmc 06, INSERM, CNRS; Laboratoire des Signaux et Systèmes (L2S) (A.G., A.T.), CNRS-CentraleSupélec, Université Paris-Saclay; Sorbonne Université (B.S.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital St. Antoine-HUEP; and INSERM (B.F.), SU, AP-HP, Centre de recherche en Myologie-UMR974 and Service of Neuro-Myology, Institute of Myology, University hospital Pitié-Salpêtriere.

Publikováno v: Neurology(R) neuroimmunology & neuroinflammation [Neurol Neuroimmunol Neuroinflamm] 2024 Nov; Vol. 11 (6), pp. e200312. Date of Electronic Publication: 2024 Oct 28.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Autor: Méreaux JL; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Davoine CS; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom., Coarelli G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Coutelier M; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Ewenczyk C; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Monin ML; Centre de Reference Maladies Rares « Neurogénétique », Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), 33000, Bordeaux, France., Anheim M; Department of Neurology, Strasbourg University Hospital, 67098, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, 67400, Illkirch-Graffenstaden, France., Le Ber I; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Thobois S; Department of Neurology C, Expert Parkinson Centre NS-Park/F-CRIN, Hospices Civils de Lyon, Pierre Wertheimer Neurological Hospital, 69677, Bron, France; Marc Jeannerod Cognitive Neuroscience Institute, CNRS, UMR 5229, Bron, France; Faculté de Médecine Et de Maïeutique Lyon Sud Charles Mérieux, Université Claude Bernard Lyon 1, Université de Lyon, Lyon, France., Gobert F; Neuro-Intensive Care Unit, Hospices Civils de Lyon, Neurological Hospital Pierre-Wertheimer, Lyon, France; University Lyon I, Villeurbanne, France., Guillot-Noël L; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Forlani S; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Jornea L; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Heinzmann A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Sangare A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Department of Neurophysiology, University Hospital Group APHP-Sorbonne University, Pitié-Salpêtrière Site, Paris, France., Gaymard B; Department of Neurophysiology, University Hospital Group APHP-Sorbonne University, Pitié-Salpêtrière Site, Paris, France., Guyant-Maréchal L; Neurophysiology Department, Rouen University Hospital, Rouen, France; Medical Genetics Department, Rouen University Hospital, Rouen, France., Charles P; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Marelli C; MMDN, University Montpellier, EPHE, INSERM and Expert Center for Neurogenetic Diseases, CHU, 34095, Montpellier, France., Honnorat J; Reference Center for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS Institute UMR CNRS 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Degos B; Neurology Department, Avicenne Hospital, APHP, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Sorbonne Paris Nord, Réseau NS-PARK/FCRIN, Bobigny, France., Tison F; Institut des Maladies Neurodégénératives-Clinique (IMNc), University Hospital Bordeaux, Bordeaux, France; Institut des Maladies Neurodégénératives, CNRS, UMR 5293, Bordeaux University, Bordeaux, France., Sangla S; Neurology Department, Hôpital Fondation Adolphe de Rothschild, Paris, France., Simonetta-Moreau M; Department of Neurology, University Hospital of Toulouse, 31300, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), Inserm, UPS, Université de Toulouse, 31024, Toulouse, France; Clinical Investigation Center (CIC 1436), Toulouse University Hospital, INSERM, 31059, Toulouse, France., Salachas F; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Département de Neurologie, Assistance Publique Hôpitaux de Paris (APHP), Centre de Référence SLA Ile de France, Hôpital de la Pitié-Salpêtrière, Paris, France., Tchikviladzé M; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Castelnovo G; Department of Neurology, Nîmes University Hospital, Hopital Caremeau, Nîmes, France., Mochel F; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany., Castrioto A; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Neurology Department, 38000, Grenoble, France., Fenu S; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Méneret A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Département de Neurologie, Hôpital de la Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris (APHP), Paris, France., Bourdain F; Service de Neurologie, Centre Hospitalier de la Côte Basque, Bayonne, France., Wandzel M; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France., Roth V; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France., Bonnet C; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France., Riant F; Service de Génétique Moléculaire Neurovasculaire, AP-HP, Saint Louis Hospital, Paris, France., Stevanin G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Bordeaux University (Université de Bordeaux), Equipe « Neurogénétique Translationnelle - NRGEN », INCIA CNRS UMR5287, EPHE, 33000, Bordeaux, France., Noël S; Unité de Neurogénétique Moléculaire et Cellulaire, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Fauret-Amsellem AL; Unité de Neurogénétique Moléculaire et Cellulaire, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Bahlo M; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada., Renaud M; Service de Génétique Clinique et de Neurologie, Hôpital Brabois, Nancy, France; INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine, Nancy, France., Brice A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address: alexandra.durr@icm-institute.org.

Publikováno v: EBioMedicine [EBioMedicine] 2024 Jan; Vol. 99, pp. 104931. Date of Electronic Publication: 2023 Dec 27.

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.

Autor: Méreaux JL; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Davoine CS; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Coutelier M; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Guillot-Noël L; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Castrioto A; Department of Neurology, University Hospital Centre Grenoble Alpes, Grenoble, France., Charles P; Genetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Coarelli G; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Ewenczyk C; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany., Heinzmann A; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Méneret A; Neurology Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Fauret-Amsellem AL; Molecular and Cellular Neurogenetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., de Sainte Agathe JM; Molecular and Cellular Neurogenetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Brice A; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Durr A; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France alexandra.durr@icm-institute.org.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 717-721. Date of Electronic Publication: 2023 Jan 04.

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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Autor: Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., De Winter J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Beijer D; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Coarelli G; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France., Wayand M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Palvadeau R; Koc University, School of Medicine, Suna and Inan Kirac Foundation, Istanbul, Turkey., Pauly MG; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Klein K; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Rautenberg M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Guillot-Noël L; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France., Deconinck T; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., Vural A; School of Medicine, Department of Neurology, Koc University, Istanbul, Turkey., Ertan S; School of Medicine, Department of Neurology, Koc University, Istanbul, Turkey., Dogu O; Department of Neurology, School of Medicine, Mersin University, Mersin, Turkey., Uysal H; Department of Neurology, School of Medicine, Akdeniz University, Antalya, Turkey., Brankovic V; Clinic for Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia., Herzog R; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany., Brice A; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France., Durr A; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France., Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany., Stock F; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Bischoff AT; Department of Neurology, Friedrich-Baur-Institute, LMU Munich, Munich, Germany., Rattay TW; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Sobrido MJ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.; Neurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain., De Michele G; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., De Jonghe P; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, LMU Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy., Santorelli FM; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy., Timmerman V; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Züchner S; Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Schüle R; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Stevanin G; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France.; Paris Sciences Lettres Research University, Ecole Pratique des Hautes Etudes, Paris, France., Synofzik M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Basak AN; Koc University, School of Medicine, Suna and Inan Kirac Foundation, Istanbul, Turkey., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jun; Vol. 37 (6), pp. 1175-1186. Date of Electronic Publication: 2022 Feb 12.