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- [41] Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical DevelopmentHUMAN MUTATION, 2014, 35 (03) : 298 - 302Fiorillo, Chiara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyMoro, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyYi, Julie论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyWeil, Sarah论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyBrisca, Giacomo论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Pediat Neurol Unit, Dept Neurosci & Rehabil, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyAstrea, Guja论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalySeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyRomano, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Salento, Dept Biol & Environm Sci & Technol, Lecce, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyBattini, Roberta论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyRossi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyMinetti, Carlo论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Pediat Neurol Unit, Dept Neurosci & Rehabil, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyBruno, Claudio论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Pediat Neurol Unit, Dept Neurosci & Rehabil, I-16148 Genoa, Italy Ist Giannina Gaslini, Ctr Myol, Dept Neurosci & Rehabil, I-16148 Genoa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalySantorelli, Filippo M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, ItalyVallee, Richard论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA IRCCS Stella Maris, Neuromuscular & Mol Med Unit, Dept Dev Neurosci, I-56028 Pisa, Italy
- [42] Effect of conditional deletion of cytoplasmic dynein heavy chain DYNC1H1 on postnatal photoreceptorsPLOS ONE, 2021, 16 (03):Dahl, Tiffanie M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USA Univ Utah, Neurosci Grad Program, Salt Lake City, UT USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USA论文数: 引用数: h-index:机构:Gerstner, Cecilia D.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USAYing, Guoxin论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USABaehr, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USA Univ Utah, Dept Neurobiol & Anat, Salt Lake City, UT 84112 USA Univ Utah, Dept Biol, Salt Lake City, UT 84112 USA Univ Utah, Hlth Sci Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USA
- [43] Patient-specific mutation of Dync1h1 in mice causes brain and behavioral deficitsNEUROBIOLOGY OF DISEASE, 2024, 199Ramos, Raddy L.论文数: 0 引用数: 0 h-index: 0机构: Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USADe Heredia, Maider Michelena Beltran论文数: 0 引用数: 0 h-index: 0机构: Francisco Vitoria Univ, BS Biotechnol, Madrid, Spain Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USAZhang, Yongwei论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Canc Ctr, 1301 Morris Pk Ave,Price Bldg,Rm 269, Bronx, NY 10461 USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USAStout, Randy F.论文数: 0 引用数: 0 h-index: 0机构: Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 22, Old Westbury, NY 11568 USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USATindi, Jaafar O.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Kennedy Ctr, Dominick P Purpura Dept Neurosci, Rm 501,1410 Pelham Pkwy S, Bronx, NY 10461 USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USAWu, Liching论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Med, Bronx, NY USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USASchwartz, Gary J.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Fleischer Inst Diabet & Metab, Bronx, NY USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USABotbol, Yair M.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Pathol, 1300 Morris Pk Ave,Forchheimer Bldg,Rm 520, Bronx, NY 10461 USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USASidoli, Simone论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein, Dept Biochem, Bronx, NY USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USA论文数: 引用数: h-index:机构:Rakowski-Anderson, Tammy论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Inst Anim Studies, Van Etten Bldg,Room 463, Bronx, NY 10461 USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USAShafit-Zagardo, Bridget论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Pathol, 1300 Morris Pk Ave,Forchheimer Bldg 514, Bronx, NY 10461 USA Riland Acad Hlth Ctr, New York Inst Technol, Coll Osteopath Med, Dept Biomed Sci, Room 26, Old Westbury, NY 11568 USA
- [44] DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disordersSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2024, 116 : 119 - 125Wu, Wu-Chen论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Inst Neurosci, Minist Educ China, Guangzhou, Peoples R China Shenzhen Univ, Gen Hosp, Dept Neurosurg, Shenzhen, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaLiang, Xiao-Yu论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Inst Neurosci, Minist Educ China, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaZhang, Dong -Ming论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Inst Neurosci, Minist Educ China, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaJin, Liang论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Inst Neurosci, Minist Educ China, Guangzhou, Peoples R China Univ South China, Affiliated Nanhua Hosp, Hengyang Med Sch, Dept Neurol, Hengyang, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaLiu, Zhi-Gang论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Affiliated Foshan Matern & Child Healthcare Hosp, Dept Pediat, Foshan, Guangdong, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaZeng, Xiao-Lu论文数: 0 引用数: 0 h-index: 0机构: Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Pediat, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaZhai, Qiong-Xiang论文数: 0 引用数: 0 h-index: 0机构: Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Pediat, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaLiao, Wei-Ping论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Inst Neurosci, Minist Educ China, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaHe, Na论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Inst Neurosci, Minist Educ China, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R ChinaMeng, Xiang-Hong论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Univ, Gen Hosp, Dept Neurosurg, Shenzhen, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Dept Neurol, Key Lab Neurogenet & Channelopathies Guangdong Pro, Guangzhou, Peoples R China
- [45] Identification of a de novo DYNC1H1 mutation via WES according to published guidelinesScientific Reports, 6Dongxue Ding论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyZhao Chen论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyKai Li论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyZhe Long论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyWei Ye论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyZhaoli Tang论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyKun Xia论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyRong Qiu论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyBeisha Tang论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of NeurologyHong Jiang论文数: 0 引用数: 0 h-index: 0机构: Xiangya Hospital,Department of Neurology
- [46] 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
- [47] 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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- [49] A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomaliesEUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (12)Viollet, Louis M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Med Genet Pediat, Salt Lake City, UT USA Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USASwoboda, Kathryn J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USAMao, Rong论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Med Genet Pediat, Salt Lake City, UT USA ARUP Labs, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USABest, Hunter论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Med Genet Pediat, Salt Lake City, UT USA ARUP Labs, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USAHa, Youna论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USAToutain, Annick论文数: 0 引用数: 0 h-index: 0机构: Hop Bretonneau, Genet Clin, Tours, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USAGuyant-Marechal, Lucie论文数: 0 引用数: 0 h-index: 0机构: Hop Charles Nicolle, Genet Clin, Rouen, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USALaroche-Raynaud, Cecile论文数: 0 引用数: 0 h-index: 0机构: Hop Mere & Enfant, Neuropediat, Limoges, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USAGhorab, Karima论文数: 0 引用数: 0 h-index: 0机构: Hop Dupuytren, Neurol, Limoges, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USABarthez, Marie Anne论文数: 0 引用数: 0 h-index: 0机构: CHU Tours, Hop Clocheville, Neuropediat, Tours, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USAPedespan, Jean Michel论文数: 0 引用数: 0 h-index: 0机构: Hop Pellegrin, Neuropediat, Bordeaux, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USAHernandorena, Xavier论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp La Cote Basque, Pediat, Bayonne, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USALia, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Hop Dupuytren, Biochim & Genet Mol, Limoges, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USADeleuze, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: CEA, CNG, Evry, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USAMasson, Cecile论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Inst Imagine, Paris, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USANelson, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Inst Myol, Paris, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USANectoux, Juliette论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, Biochim & Genet Mol, Paris, France Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USASi, Yue论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA GeneDx, Clin Genom Program, Gaithersburg, MD 20877 USA Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Salt Lake City, UT USA
- [50] 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