共 50 条
- [41] Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variationsMOLECULAR CYTOGENETICS, 2015, 8Liu, WeiQiang论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R ChinaZhang, HuiMin论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Lab Med, Shanghai 200127, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R ChinaYu, GuoJiu论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R ChinaQiu, WenJun论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R ChinaLi, ZhiHua论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Dept Prenatal Diag & Fetal Med, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R ChinaChen, Min论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Dept Prenatal Diag & Fetal Med, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R ChinaChoy, Kwong Wai论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R ChinaSun, XiaoFang论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510150, Guangdong, Peoples R China
- [42] Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyMOLECULAR GENETICS AND METABOLISM, 2013, 110 (03) : 345 - 351Yang, Amy C.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USANg, Bobby G.论文数: 0 引用数: 0 h-index: 0机构: Sanford Burnham Med Res Inst, Sanford Childrens Hlth Res Ctr, La Jolla, CA USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAMoore, Steven A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pathol, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USARush, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Coll Med, Chandler Med Ctr, Dept Mol & Cellular Biochem, Lexington, KY USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAWaechter, Charles J.论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Coll Med, Chandler Med Ctr, Dept Mol & Cellular Biochem, Lexington, KY USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USARaymond, Kimiyo M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Sch Med, Dept Lab Med & Pathol, Rochester, MN USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAWiller, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Howard Hughes Med Inst, Roy J & Lucille Carver A Coll Med, Dept Mol Physiol & Biophys,Dept Neurol,Dept Inter, Iowa City, IA 52242 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USACampbell, Kevin P.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Howard Hughes Med Inst, Roy J & Lucille Carver A Coll Med, Dept Mol Physiol & Biophys,Dept Neurol,Dept Inter, Iowa City, IA 52242 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAFreeze, Hudson H.论文数: 0 引用数: 0 h-index: 0机构: Sanford Burnham Med Res Inst, Sanford Childrens Hlth Res Ctr, La Jolla, CA USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAMehta, Lakshmi论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
- [43] Difference of the mechanism of dysphagia between Duchenne muscular dystrophy and myotonic dystrophy type 1NEUROMUSCULAR DISORDERS, 2013, 23 (9-10) : 792 - 792Furuya, H.论文数: 0 引用数: 0 h-index: 0机构: NHO Omuta Hosp, Neuromuscular Ctr, Fukuoka, Japan NHO Omuta Hosp, Neuromuscular Ctr, Fukuoka, JapanUmemoto, G.论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Fac Med, Dept Oral & Maxillofacial Surg, Fukuoka 81401, Japan NHO Omuta Hosp, Neuromuscular Ctr, Fukuoka, JapanKikuta, T.论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Fac Med, Dept Oral & Maxillofacial Surg, Fukuoka 81401, Japan NHO Omuta Hosp, Neuromuscular Ctr, Fukuoka, JapanArahata, H.论文数: 0 引用数: 0 h-index: 0机构: Natl Omuta Hosp, Neuromuscular Ctr, Dept Neurol, Fukuoka, Japan NHO Omuta Hosp, Neuromuscular Ctr, Fukuoka, JapanFujii, N.论文数: 0 引用数: 0 h-index: 0机构: Natl Omuta Hosp, Neuromuscular Ctr, Dept Neurol, Fukuoka, Japan NHO Omuta Hosp, Neuromuscular Ctr, Fukuoka, Japan
- [44] Congenital Muscular Dystrophy Type 1D (α-Dystroglycanopathy) in a Family of Labrador Retrievers with a Stop Codon Mutation in LARGE1 GeneNEUROMUSCULAR DISORDERS, 2020, 30 : S170 - S170Shelton, G. Diane论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAMinor, Kate M.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Vet Med, Dept Vet & Biomed Sci, St Paul, MN 55108 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAGuo, Ling T.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAFriedenberg, Steven G.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Vet Med, Dept Vet Clin Sci, St Paul, MN 55108 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USACullen, Jonah N.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Vet Med, Dept Vet Clin Sci, St Paul, MN 55108 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAHord, Jeffrey M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Howard Hughes Med Inst, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys,Roy J & Lucille A Carv, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAVenzke, David论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Howard Hughes Med Inst, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys,Roy J & Lucille A Carv, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAAnderson, Mary E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Howard Hughes Med Inst, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys,Roy J & Lucille A Carv, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USADevereaux, Megan论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Howard Hughes Med Inst, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys,Roy J & Lucille A Carv, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAHandelman, Caryl论文数: 0 引用数: 0 h-index: 0机构: Vet Housecalls Long Isl, Commack, NY USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USACampbell, Kevin P.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Howard Hughes Med Inst, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys,Roy J & Lucille A Carv, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAMickelson, James R.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Vet Med, Dept Vet & Biomed Sci, St Paul, MN 55108 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USA
- [45] GGPS1-associated muscular dystrophy with and without hearingEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 510 - 510Rocca, Clarissa论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandKaiyrzhanov, Rauan论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandZaki, Maha论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res, Cairo, Egypt UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandHosny, Heba论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neuromotor Syst, Dept Genet, Cairo, Egypt UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandBeetz, Christian论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandMovahedinia, Mojtaba论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Pediat Neurol Div, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandVuillaumier-Barrot, Sandrine论文数: 0 引用数: 0 h-index: 0机构: Hop Xavier Bichat, AP HP, Dept Biochem, Paris, France UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandIsapof, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Armand Trousseau, APHP, Serv Neurol Pediat, Paris, France UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandMehrjardi, Mohammad Yahya Vahidi论文数: 0 引用数: 0 h-index: 0机构: Yazd Shahid Sadoughi Univ Med Sci Campus, Yazd, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandGhasemi, Nasrin论文数: 0 引用数: 0 h-index: 0机构: Yazd Shahid Sadoughi Univ Med Sci Campus, Yazd, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England论文数: 引用数: h-index:机构:Houlden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
- [46] Cardiac atrophy: a Novel Mechanism for Duchenne Muscular Dystrophy (DMD)-Associated CardiomyopathyNEUROLOGY, 2018, 90Khan, Shaida论文数: 0 引用数: 0 h-index: 0机构: Div Neuromuscular Med, Dept Neurol & Neurotherapeut, Dallas, TX USA Div Neuromuscular Med, Dept Neurol & Neurotherapeut, Dallas, TX USACheeran, Daniel论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Div Cardiol, Internal Med, Dallas, TX USA Div Neuromuscular Med, Dept Neurol & Neurotherapeut, Dallas, TX USAMammen, Pradeep论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Div Cardiol, Internal Med, Dallas, TX USA Div Neuromuscular Med, Dept Neurol & Neurotherapeut, Dallas, TX USA
- [47] CARDIAC ATROPHY: A NOVEL MECHANISM FOR DUCHENNE MUSCULAR DYSTROPHY (DMD)ASSOCIATED CARDIOMYOPATHYJOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2017, 69 (11) : 946 - 946Khan, Shaida论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USACheeran, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USAGarg, Sonia论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USAGrodin, Justin论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USAMorlend, Robert论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USAAraj, Faris论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USAAmin, Alpesh论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USAThibodeau, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USADrazner, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USAMammen, Pradeep论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA
- [48] Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technologyCLINICAL GENETICS, 2012, 81 (06) : 578 - 583Cottrell, C. E.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USAMendell, J.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA Nationwide Childrens Hosp, Neurol Sect, Columbus, OH 43205 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USAHart-Kothari, M.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USAEll, D.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USAThrush, D. L.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USAAstbury, C.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USA Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USAPastore, M.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pediat, Div Mol & Human Genet, Columbus, OH 43210 USA Nationwide Childrens Hosp, Sect Mol & Human Genet, Columbus, OH 43205 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USAGastier-Foster, J. M.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USA Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USAPyatt, R. E.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USA Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH 43205 USA
- [49] Genotype-Phenotype Correlations for Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (POMGNT1) in Congenital Muscular DystrophyGLYCOBIOLOGY, 2018, 28 (12) : 1044 - 1044Ho, Jessica Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Georgia, Dept Cellular Biol, Athens, GA 30602 USA Univ Georgia, Complex Carbohydrate Res Ctr, 220 Riverbend Rd, Athens, GA 30602 USA Univ Georgia, Dept Cellular Biol, Athens, GA 30602 USABoyd, Sally R.论文数: 0 引用数: 0 h-index: 0机构: Univ Georgia, Dept Biochem & Mol Biol, Athens, GA 30602 USA Univ Georgia, Complex Carbohydrate Res Ctr, 220 Riverbend Rd, Athens, GA 30602 USA Univ Georgia, Dept Cellular Biol, Athens, GA 30602 USASingh, Danish论文数: 0 引用数: 0 h-index: 0机构: Univ Georgia, Dept Biochem & Mol Biol, Athens, GA 30602 USA Univ Georgia, Complex Carbohydrate Res Ctr, 220 Riverbend Rd, Athens, GA 30602 USA Univ Georgia, Dept Cellular Biol, Athens, GA 30602 USAHalmo, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Univ Georgia, Dept Biochem & Mol Biol, Athens, GA 30602 USA Univ Georgia, Complex Carbohydrate Res Ctr, 220 Riverbend Rd, Athens, GA 30602 USA Univ Georgia, Dept Cellular Biol, Athens, GA 30602 USAWells, Lance论文数: 0 引用数: 0 h-index: 0机构: Univ Georgia, Dept Biochem & Mol Biol, Athens, GA 30602 USA Univ Georgia, Complex Carbohydrate Res Ctr, 220 Riverbend Rd, Athens, GA 30602 USA Univ Georgia, Dept Cellular Biol, Athens, GA 30602 USA
- [50] STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental IsodisomyMOVEMENT DISORDERS CLINICAL PRACTICE, 2025, 12 (04): : 533 - 536Agianda, Habibah A. P.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USATam, Amy论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USAKunta, Avaneesh论文数: 0 引用数: 0 h-index: 0机构: Univ Cent Florida, Coll Med, Orlando, FL USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USAZubair, Umar论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USASaffari, Afshin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USARong, Joshua论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USACrough, Michelle论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USASrouji, Rasha论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USAQuiroz, Vicente论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USAYang, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USASchierbaum, Luca论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USAEbrahimi-Fakhari, Darius论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, 3 Blackfan Circle, Boston, MA 02115 USA