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- [21] First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformitiesNEUROLOGY INDIA, 2015, 63 (03) : 395 - 398Kalane, Umesh Dinkar论文数: 0 引用数: 0 h-index: 0机构: Deenanath Mangeshkar Hosp, Dept Pediat Neurol, Pune, Maharashtra, India Deenanath Mangeshkar Hosp, Dept Pediat Neurol, Pune, Maharashtra, IndiaDatar, Chaitanya论文数: 0 引用数: 0 h-index: 0机构: Sahyadri Genet & Tissue Engn Facil, Pune, Maharashtra, India Deenanath Mangeshkar Hosp, Dept Pediat Neurol, Pune, Maharashtra, IndiaMahadevan, Anita论文数: 0 引用数: 0 h-index: 0机构: NIMHANS, Dept Neuropathol, Bengaluru, Karnataka, India Deenanath Mangeshkar Hosp, Dept Pediat Neurol, Pune, Maharashtra, India
- [22] Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challengesMUSCLE & NERVE, 2018, 57 (05) : 749 - 755Jerath, Nivedita U.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Florida, Dept Neurol, POB 100236, Gainesville, FL 32610 USA Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USAMankodi, Ami论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USACrawford, Thomas O.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Pediat Neurol, Baltimore, MD USA Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USAGrunseich, Christopher论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USABaloui, Hasna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Neurosci, Stockholm, Sweden Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USANnamdi-Emeratom, Chioma论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USASchindler, Alice B.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USAHeiman-Patterson, Terry论文数: 0 引用数: 0 h-index: 0机构: Drexel Univ, Coll Med, Dept Neurol, Philadelphia, PA 19104 USA Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USAChrast, Roman论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Neurosci, Stockholm, Sweden Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USAShy, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USA Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USA
- [23] Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4CBIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2016, 1862 (07): : 1279 - 1290Vijay, Sauparnika论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Clin Neurosci, Cambridge Inst Med Res, Cambridge Biomedical Campus, Cambridge CB2 0XY, England New York Univ Abu Dhabi, POB 129188, Abu Dhabi, U Arab Emirates Univ Cambridge, Dept Clin Neurosci, Cambridge Inst Med Res, Cambridge Biomedical Campus, Cambridge CB2 0XY, EnglandChiu, Meagan论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Cell Biol, 5-31 Med Sci Bldg, Edmonton, AB, Canada Univ Cambridge, Dept Clin Neurosci, Cambridge Inst Med Res, Cambridge Biomedical Campus, Cambridge CB2 0XY, EnglandDacks, Joel B.论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Cell Biol, 5-31 Med Sci Bldg, Edmonton, AB, Canada Univ Cambridge, Dept Clin Neurosci, Cambridge Inst Med Res, Cambridge Biomedical Campus, Cambridge CB2 0XY, EnglandRoberts, Rhys C.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Clin Neurosci, Cambridge Inst Med Res, Cambridge Biomedical Campus, Cambridge CB2 0XY, England Univ Cambridge, Dept Clin Neurosci, Cambridge Inst Med Res, Cambridge Biomedical Campus, Cambridge CB2 0XY, England
- [24] Haplotype-specific modulation of a SOX10/CREB response element at the Charcot Marie Tooth disease type 4C locus SH3TC2HUMAN MOLECULAR GENETICS, 2014, 23 (19) : 5171 - 5187Brewer, Megan Hwa论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAMa, Ki Hwan论文数: 0 引用数: 0 h-index: 0机构: Univ Wisconsin, Cellular & Mol Pathol CMP Program, Madison, WI USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USABeecham, Gary W.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Dr John T Macdonald Fdn, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAGopinath, Chetna论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Cellular & Mol Biol Program, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USABaas, Frank论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Genome Anal, NL-1105 AZ Amsterdam, Netherlands Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAChoi, Byung-Ok论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul, South Korea Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAShy, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Pediat, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Carver Coll Med, Dept Physiol, Iowa City, IA USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAZuechner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Dr John T Macdonald Fdn, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USASvaren, John论文数: 0 引用数: 0 h-index: 0机构: Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA Univ Wisconsin, Dept Comparat Biosci, Madison, WI 53706 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAAntonellis, Anthony论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Cellular & Mol Biol Program, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA
- [25] SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recyclingBRAIN, 2010, 133 : 2462 - 2474Stendel, Claudia论文数: 0 引用数: 0 h-index: 0机构: ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, Switzerland ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandRoos, Andreas论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet, Aachen, Germany ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandKleine, Henning论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Biochem & Mol Biol, Aachen, Germany ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandArnaud, Estelle论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Med Genet, Lausanne, Switzerland Univ Lausanne, Serv Med Genet, Lausanne, Switzerland CHU Vaudois, CH-1011 Lausanne, Switzerland ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandOezcelik, Murat论文数: 0 引用数: 0 h-index: 0机构: ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, Switzerland ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandSidiropoulos, Paris N. M.论文数: 0 引用数: 0 h-index: 0机构: ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, Switzerland ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, Switzerland论文数: 引用数: h-index:机构:Schuepfer, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Med Genet, Lausanne, Switzerland Univ Lausanne, Serv Med Genet, Lausanne, Switzerland CHU Vaudois, CH-1011 Lausanne, Switzerland ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandLehmann, Ute论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Biochem & Mol Biol, Aachen, Germany ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandSobota, Radoslaw M.论文数: 0 引用数: 0 h-index: 0机构: Univ So Denmark, Dept Biochem & Mol Biol, Ctr Expt Bioinformat, Odense, Denmark ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandLitchfield, David W.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, Dept Biochem, London, ON, Canada ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandLuescher, Bernhard论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Biochem & Mol Biol, Aachen, Germany ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, Switzerland论文数: 引用数: h-index:机构:Suter, Ueli论文数: 0 引用数: 0 h-index: 0机构: ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, Switzerland ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, SwitzerlandSenderek, Jan论文数: 0 引用数: 0 h-index: 0机构: ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, Switzerland ETH, Inst Cell Biol, Dept Biol, CH-8093 Zurich, Switzerland
- [26] The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4CLINICAL GENETICS, 2007, 71 (04) : 343 - 349Claramunt, R.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Biomed, Dept Genom & Proteom, E-46010 Valencia, SpainSevilla, T.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Biomed, Dept Genom & Proteom, E-46010 Valencia, SpainLupo, V.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Biomed, Dept Genom & Proteom, E-46010 Valencia, SpainCuesta, A.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Biomed, Dept Genom & Proteom, E-46010 Valencia, SpainMillan, J. M.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Biomed, Dept Genom & Proteom, E-46010 Valencia, SpainVilchez, J. J.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Biomed, Dept Genom & Proteom, E-46010 Valencia, SpainPalau, F.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Biomed, Dept Genom & Proteom, E-46010 Valencia, SpainEspinos, C.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Biomed, Dept Genom & Proteom, E-46010 Valencia, Spain
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