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- [32] Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 MutationsFRONTIERS IN NEUROLOGY, 2022, 13Li, Jia-Tong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaDong, Si-Qi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaZhu, Dong-Qing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaYang, Wen-Bo论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaQian, Ting论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaLiu, Xiao-Ni论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaChen, Xiang-Jun论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China
- [33] DYNC1H1 MUTATIONS TOWARDS MUSCLE AND NEUROPATHY DISEASES: THE ROLE OF MAGNETIC RESONANCE IMAGINGJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 : S22 - S22Lenzi, S.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, Italy IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, ItalyAstrea, G.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, Italy IRCCS Stella Maris, Mol Med Unit, Calambrone Pisa, Italy IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, ItalyMoro, F.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Mol Med Unit, Calambrone Pisa, Italy IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, ItalyRubegni, A.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Mol Med Unit, Calambrone Pisa, Italy IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, ItalyFerrari, A.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, Italy IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, ItalySantorelli, F.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Mol Med Unit, Calambrone Pisa, Italy IRCCS Stella Maris, Dept Dev Neurosci, Calambrone Pisa, Italy论文数: 引用数: h-index:机构:
- [34] THE PHENOTYPIC GENETIC SPECTRUM OF PATIENTS WITH MUTATIONS IN CYTOPLASMIC DYNEIN HEAVY CHAIN 1 (DYNC1H1)JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2013, 18 : 97 - 97Rossor, A. M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Neurol, London, EnglandScoto, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, London, England UCL Inst Neurol, London, EnglandHarms, M.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA UCL Inst Neurol, London, EnglandBaloh, R.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, St Louis, MO USA UCL Inst Neurol, London, EnglandHoulden, H.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Neurol, London, EnglandSewry, C.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, London, England UCL Inst Neurol, London, EnglandManzur, A.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, London, England UCL Inst Neurol, London, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, London, England UCL Inst Neurol, London, EnglandReilly, M. M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Neurol, London, England
- [35] SPINAL MUSCLE ATROPHY WITH LOWER EXTREMITY PREDOMINANCE (SMA-LED) ASSOCIATED TO A NOVEL DYNC1H1 MUTATION: THE RELEVANCE OF MUSCLE MRIJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 263 - 263Guimaraes-Costa, R.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Ctr Reference Malad Neuromusculaires Paris Est, Inst Myol, Paris, France Hop La Pitie Salpetriere, Ctr Reference Malad Neuromusculaires Paris Est, Inst Myol, Paris, FranceBoespflug-Tanguy, O.论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Serv Neurol Pediat & Malad Metab, Paris, France Hop La Pitie Salpetriere, Ctr Reference Malad Neuromusculaires Paris Est, Inst Myol, Paris, FranceLatour, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Neurol, Ctr Biol & Pathol Est, Lyon, France Hop La Pitie Salpetriere, Ctr Reference Malad Neuromusculaires Paris Est, Inst Myol, Paris, FranceStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Ctr Reference Malad Neuromusculaires Paris Est, Inst Myol, Paris, France Hop La Pitie Salpetriere, Ctr Reference Malad Neuromusculaires Paris Est, Inst Myol, Paris, France
- [36] Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyNATURE GENETICS, 2013, 45 (06) : 639 - +Poirier, Karine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceLebrun, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceBroix, Loic论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceTian, Guoling论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, Dept Mol Pharmacol & Biochem, New York, NY 10016 USA Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceSaillour, Yoann论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceBoscheron, Cecile论文数: 0 引用数: 0 h-index: 0机构: Univ Grenoble 1, INSERM, Inst Neurosci, U836, Grenoble, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France论文数: 引用数: h-index:机构:Valence, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceSaint Pierre, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceOger, Madison论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceLacombe, Didier论文数: 0 引用数: 0 h-index: 0机构: CHU Pellegrin, Dept Med Genet, Bordeaux, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceGenevieve, David论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier I, INSERM, Dept Med Genet, U844, Montpellier, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France论文数: 引用数: h-index:机构:Darra, Franscesca论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Verona, UOC Neuropsichiatria Infantile, Verona, Italy Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceCances, Claude论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Dept Pediat, Toulouse, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceBarth, Magalie论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, INSERM, U694, CHU 4, Angers, France CHU Angers, Serv Genet, Angers, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France论文数: 引用数: h-index:机构:Dalla Bernadina, Bernardo论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Verona, UOC Neuropsichiatria Infantile, Verona, Italy Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceN'Guyen, Sylvie论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Clin Med Pediat, F-44035 Nantes 01, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France论文数: 引用数: h-index:机构:Parent, Philippe论文数: 0 引用数: 0 h-index: 0机构: Serv Pediat & Genet Med, Brest, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FrancePortes, Vincent des论文数: 0 引用数: 0 h-index: 0机构: Univ Lyon 1, CHU Lyon, Ctr Reference Deficiences Intellectuelles Causes, CNRS,L2C2, Bron, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FrancePedespan, Jean Michel论文数: 0 引用数: 0 h-index: 0机构: CHU Pellegrin, Serv Pediat, Bordeaux, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceLegrez, Victoire论文数: 0 引用数: 0 h-index: 0机构: CHU Bicetre, Serv Neuropediat, Le Kremlin Bicetre, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceCastelnau-Ptakine, Laetitia论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France论文数: 引用数: h-index:机构:Hieu, Thierry论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceMasson, Cecile论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceZelenika, Diana论文数: 0 引用数: 0 h-index: 0机构: CNG, Evry, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceAndrieux, Annie论文数: 0 引用数: 0 h-index: 0机构: Univ Grenoble 1, INSERM, Inst Neurosci, U836, Grenoble, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France论文数: 引用数: h-index:机构:Guerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Pediat Neurol Unit & Labs, Florence, Italy Stella Maris Fdn, IRCCS, Pisa, Italy Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceCowan, Nicholas J.论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, Dept Mol Pharmacol & Biochem, New York, NY 10016 USA Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceBahi-Buisson, Nadia论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite Neurol Pediat, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, FranceChelly, Jamel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France INSERM, U1016, Paris, France Univ Paris 05, CNRS, Inst Cochin, UMR 8104, Paris, France
- [37] Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyNature Genetics, 2013, 45 : 639 - 647Karine Poirier论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyNicolas Lebrun论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyLoic Broix论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyGuoling Tian论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyYoann Saillour论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyCécile Boscheron论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyElena Parrini论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyStephanie Valence论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyBenjamin Saint Pierre论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyMadison Oger论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyDidier Lacombe论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyDavid Geneviève论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyElena Fontana论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyFranscesca Darra论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyClaude Cances论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyMagalie Barth论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyDominique Bonneau论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyBernardo Dalla Bernadina论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologySylvie N'Guyen论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyCyril Gitiaux论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyPhilippe Parent论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyVincent des Portes论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyJean Michel Pedespan论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyVictoire Legrez论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyLaetitia Castelnau-Ptakine论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyPatrick Nitschke论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyThierry Hieu论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyCecile Masson论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyDiana Zelenika论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyAnnie Andrieux论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyFiona Francis论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyRenzo Guerrini论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyNicholas J Cowan论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyNadia Bahi-Buisson论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular PharmacologyJamel Chelly论文数: 0 引用数: 0 h-index: 0机构: Institut Cochin,Department of Biochemistry and Molecular Pharmacology
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- [39] Erratum: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyNature Genetics, 2013, 45 : 962 - 962Karine Poirier论文数: 0 引用数: 0 h-index: 0Nicolas Lebrun论文数: 0 引用数: 0 h-index: 0Loic Broix论文数: 0 引用数: 0 h-index: 0Guoling Tian论文数: 0 引用数: 0 h-index: 0Yoann Saillour论文数: 0 引用数: 0 h-index: 0Cécile Boscheron论文数: 0 引用数: 0 h-index: 0Elena Parrini论文数: 0 引用数: 0 h-index: 0Stephanie Valence论文数: 0 引用数: 0 h-index: 0Benjamin Saint Pierre论文数: 0 引用数: 0 h-index: 0Madison Oger论文数: 0 引用数: 0 h-index: 0Didier Lacombe论文数: 0 引用数: 0 h-index: 0David Geneviève论文数: 0 引用数: 0 h-index: 0Elena Fontana论文数: 0 引用数: 0 h-index: 0Franscesca Darra论文数: 0 引用数: 0 h-index: 0Claude Cances论文数: 0 引用数: 0 h-index: 0Magalie Barth论文数: 0 引用数: 0 h-index: 0Dominique Bonneau论文数: 0 引用数: 0 h-index: 0Bernardo Dalla Bernadina论文数: 0 引用数: 0 h-index: 0Sylvie N'Guyen论文数: 0 引用数: 0 h-index: 0Cyril Gitiaux论文数: 0 引用数: 0 h-index: 0Philippe Parent论文数: 0 引用数: 0 h-index: 0Vincent des Portes论文数: 0 引用数: 0 h-index: 0Jean Michel Pedespan论文数: 0 引用数: 0 h-index: 0Victoire Legrez论文数: 0 引用数: 0 h-index: 0Laetitia Castelnau-Ptakine论文数: 0 引用数: 0 h-index: 0Patrick Nitschke论文数: 0 引用数: 0 h-index: 0Thierry Hieu论文数: 0 引用数: 0 h-index: 0Cecile Masson论文数: 0 引用数: 0 h-index: 0Diana Zelenika论文数: 0 引用数: 0 h-index: 0Annie Andrieux论文数: 0 引用数: 0 h-index: 0Fiona Francis论文数: 0 引用数: 0 h-index: 0Renzo Guerrini论文数: 0 引用数: 0 h-index: 0Nicholas J Cowan论文数: 0 引用数: 0 h-index: 0Nadia Bahi-Buisson论文数: 0 引用数: 0 h-index: 0Jamel Chelly论文数: 0 引用数: 0 h-index: 0
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