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- [21] Clinical and genetic features of patients suffering from CMT4JJournal of Neurology, 2024, 271 : 1355 - 1365Sadia Beloribi-Djefaflia论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSRaul Juntas Morales论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSFarzad Fatehi论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSArnaud Isapof论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSLaurent Servais论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSSarah Leonard-Louis论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSMaud Michaud论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSPierre Verdure论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSTeresa Gidaro论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSJean Pouget论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSVianney Poinsignon论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSNathalie Bonello-Palot论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALSShahram Attarian论文数: 0 引用数: 0 h-index: 0机构: Timone University Hospital,Reference Center for Neuromuscular Disorders and ALS
- [22] Clinical and genetic features of patients suffering from CMT4JJOURNAL OF NEUROLOGY, 2024, 271 (03) : 1355 - 1365Beloribi-Djefaflia, Sadia论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, France European Reference Network Rare Dis ERN, Filnemus, Marseille, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceMorales, Raul Juntas论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Vall dHebron Res Inst VHIR, Neurol Dept, Neuromuscular Unit, Barcelona, Spain Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceFatehi, Farzad论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, France European Reference Network Rare Dis ERN, Filnemus, Marseille, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceIsapof, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, APHP, Armand Trousseau Hosp, Reference Ctr Neuromuscular Dis,Pediat Neurol Dept, 26,Ave Docteur Arnold Netter, F-75012 Paris, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceServais, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MDUK Oxford Neuromuscular Ctr, NIHR Oxford Biomed Res Ctr, Oxford, England Univ Hosp Liege, Neuromuscular Reference Ctr, Dept Paediat, Liege, Belgium Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceLeonard-Louis, Sarah论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Reference Ctr Neuromuscular Disorders, Neuromyol, 47-83 Blvd LHopital, F-75651 Paris 13, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceMichaud, Maud论文数: 0 引用数: 0 h-index: 0机构: Cent Nancy Univ Hosp, Reference Ctr Neuromuscular Disorders, 29 Ave Marechal Lattre Tassigny, F-54035 Nancy, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceVerdure, Pierre论文数: 0 引用数: 0 h-index: 0机构: Clin St Hilaire, F-76000 Rouen, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceGidaro, Teresa论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, I Mot Inst, Paris, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FrancePouget, Jean论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, France European Reference Network Rare Dis ERN, Filnemus, Marseille, France Aix Marseille Univ, UMR 1251, Med Genet & Funct Genom, Inserm, Marseille, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FrancePoinsignon, Vianney论文数: 0 引用数: 0 h-index: 0机构: CHU Bicetre, APHP, Dept Mol Genet Pharmacogen & Hormonol, F-94276 Le Kremlin Bicetre, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceBonello-Palot, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, UMR 1251, Med Genet & Funct Genom, Inserm, Marseille, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, FranceAttarian, Shahram论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, France European Reference Network Rare Dis ERN, Filnemus, Marseille, France Aix Marseille Univ, UMR 1251, Med Genet & Funct Genom, Inserm, Marseille, France Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Disorders, ALS, 264 Rue St Pierre, F-13385 Marseille 5, France
- [23] From Review to Readiness: CMT4J and the Road to Clinical TrialsMOLECULAR THERAPY, 2024, 32 (04) : 321 - 322Cooper, Sydney论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USAGottlieb, Keith论文数: 0 引用数: 0 h-index: 0机构: Elpida Therapeut, Encino, CA USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USAMessahel, Souad论文数: 0 引用数: 0 h-index: 0机构: Elpida Therapeut, Encino, CA USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USAThomas, Rachel论文数: 0 引用数: 0 h-index: 0机构: Elpida Therapeut, Encino, CA USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USADuff, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: CureCMT4J Talia Duff Fdn, Ipswich, MA USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USAPirovolakis, Terry论文数: 0 引用数: 0 h-index: 0机构: Elpida Therapeut, Encino, CA USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USA论文数: 引用数: h-index:机构:Bonnemann, Carsten G.论文数: 0 引用数: 0 h-index: 0机构: NIH, NINDS, Bethesda, MD USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USADay, John论文数: 0 引用数: 0 h-index: 0机构: Stanford Med, Palo Alto, CA USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USAIannaccone, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX USA
- [24] Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degenerationBRAIN, 2008, 131 : 1990 - 2001Zhang, Xuebao论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USA Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USAChow, Clement Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USA论文数: 引用数: h-index:机构:Shy, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USA Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USAMeisler, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USALi, Jun论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USA John D Dingell VA Med Ctr, Detroit, MI USA Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USA
- [25] Localization of FIG4 in the Nervous SystemANNALS OF NEUROLOGY, 2011, 70 : S38 - S38Guo, Jiasong论文数: 0 引用数: 0 h-index: 0Yan, Qing论文数: 0 引用数: 0 h-index: 0Li, Jun论文数: 0 引用数: 0 h-index: 0
- [26] Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null miceMOLECULAR GENETICS AND METABOLISM, 2022, 137 (04) : 382 - 387Lenk, Guy M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, 4909 Buhl Box 5618, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAMeisler, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
- [27] LOCALIZATION OF FIG4 IN THE NERVOUS SYSTEMJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 : S51 - S51Guo, J.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Dept Neurol, Nashville, TN USA Vanderbilt Univ, Dept Neurol, Nashville, TN USAYan, Q.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Dept Neurol, Nashville, TN USA Vanderbilt Univ, Dept Neurol, Nashville, TN USALi, J.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Dept Neurol, Nashville, TN USA Vanderbilt Univ, Dept Neurol, Nashville, TN USA
- [28] New FIG4 gene mutations causing aggressive ALSEUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 (03) : E41 - E42论文数: 引用数: h-index:机构:Querin, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, ItalyBozzoni, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, ItalyMartinelli, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, ItalyDe Bortoli, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biol, Padua, Italy Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy论文数: 引用数: h-index:机构:Gellera, C.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn, C Besta Neurol Inst, Dept Clin Neurosci, Clin Cent & Peripheral Degenerat Neuropathies Uni, Milan, Italy Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, ItalyPegoraro, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, ItalySoraru, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy
- [29] Cerebral hypomyelination associated with biallelic variants of FIG4HUMAN MUTATION, 2019, 40 (05) : 619 - 630Lenk, Guy M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USABerry, Ian R.论文数: 0 引用数: 0 h-index: 0机构: Leeds Teaching Hosp NHS Trust, St Jamess Univ Hosp, Leeds Genet Lab, Leeds, W Yorkshire, England Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USA论文数: 引用数: h-index:机构:Blyth, Moira论文数: 0 引用数: 0 h-index: 0机构: Leeds Teaching Hosp NHS Trust, Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USAGreen, Lydia论文数: 0 引用数: 0 h-index: 0机构: Leeds Teaching Hosp NHS Trust, Leeds Gen Infirm, Paediat Neurol, Leeds, W Yorkshire, England Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USAVadlamani, Gayatri论文数: 0 引用数: 0 h-index: 0机构: Leeds Teaching Hosp NHS Trust, Leeds Gen Infirm, Paediat Neurol, Leeds, W Yorkshire, England Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USAWarren, Daniel论文数: 0 引用数: 0 h-index: 0机构: Leeds Teaching Hosp NHS Trust, Leeds Gen Infirm, Leeds, W Yorkshire, England Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USACraven, Ian论文数: 0 引用数: 0 h-index: 0机构: Leeds Teaching Hosp NHS Trust, Leeds Gen Infirm, Leeds, W Yorkshire, England Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USAFanjul-Fernandez, Miriam论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USARodriguez-Casero, Victoria论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USALockhart, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USAVanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Univ Penn, Perlman Sch Med, Philadelphia, PA 19104 USA Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USASimons, Cas论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USAGibb, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USASadedin, Simon论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USAWhite, Susan M.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USA论文数: 引用数: h-index:机构:Skibina, Olga论文数: 0 引用数: 0 h-index: 0机构: Monash Univ, Eastern Hlth Neurosci, Box Hill Hosp, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USARuddle, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Melbourne, Vic, Australia Ctr Eye Res Australia Ltd, East Melbourne, Vic, Australia Univ Melbourne, Dept Ophthalmol, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USATan, Tiong Y.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USALeventer, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Melbourne, Vic, Australia Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USALivingston, John H.论文数: 0 引用数: 0 h-index: 0机构: Leeds Teaching Hosp NHS Trust, Leeds Gen Infirm, Paediat Neurol, Leeds, W Yorkshire, England Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USAMeisler, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, 1241 East Catherine,4909 Buhl, Ann Arbor, MI 48109 USA
- [30] Molecular Mechanism of Segmental Demyelination in Fig4 DeficiencyANNALS OF NEUROLOGY, 2013, 74 : S106 - S106Hu, Bo论文数: 0 引用数: 0 h-index: 0Yan, Qing论文数: 0 引用数: 0 h-index: 0Arpag, Sezgi论文数: 0 引用数: 0 h-index: 0Li, Jun论文数: 0 引用数: 0 h-index: 0