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- [21] A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French familyJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 (02) : 275 - 278Theuriet, Julian论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, France Univ Lyon1, Fac Med Lyon Est, Pathophysiol & Genet Neuron & Muscle, CNRS,UMR 5261,INSERM U1315, Lyon, France Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceMarte, Sheila论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Sch, Dept Human Genet, Ann Arbor, MI USA Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceIsapof, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, AP HP, Serv Nephrol Pediat, Paris, France Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, Francede Becdelievre, Alix论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, AP HP, Dept Genet Med, Creteil, France Lab Biol Med Multisites SeqOIA PFMG2025, Paris, France Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceKonyukh, Marina论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, AP HP, Dept Genet Med, Creteil, France Lab Biol Med Multisites SeqOIA PFMG2025, Paris, France Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceLaureano-Figueroa, Stephanie M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Sch, Dept Human Genet, Ann Arbor, MI USA Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceLatour, Philippe论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Biochim & Biol Mol, Unite Fonct Pathol Neurol Hereditaires, Grp Est, Bron, France Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceQuadrio, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Biochim & Biol Mol, Unite Fonct Pathol Neurol Hereditaires, Grp Est, Bron, France Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceMaisonobe, Thierry论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Neurophysiol Clin, Paris, France Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceAntonellis, Anthony论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Sch, Dept Human Genet, Ann Arbor, MI USA Univ Michigan, Med Sch, Dept Neurol, Ann Arbor, MI USA Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, FranceStojkovic, Tanya论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Malad Neuromusculaires Nord Est Ile, Paris, France Hop La Pitie Salpetriere, Inst Myol, Ctr Reference Malad Neuromusculaires Nord Est Ile, 47-93 Blvd Hop, F-75651 Paris 13, France Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires,Grp Est, Bron, France
- [22] Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem diseaseEUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (10)Esteve, Clothilde论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, MMG, INSERM, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceRoman, Celine论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone Enfants, AP HM, Serv Pediat Multidisciplinaire, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceDeLeusse, Cecile论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone Enfants, AP HM, Serv Pediat Multidisciplinaire, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceBaravalle, Melissa论文数: 0 引用数: 0 h-index: 0机构: Timone Enfant, AP HM, Serv Pneumol Pediat, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceBertaux, Karine论文数: 0 引用数: 0 h-index: 0机构: CRB TAC CRB AP HM TAC, BIORESOURCES, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceBlanc, Frederic论文数: 0 引用数: 0 h-index: 0机构: Timone Enfant, AP HM, Serv Anesthesie Reanimat Pediat, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceBourgeois, Patrice论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, MMG, INSERM, Marseille, France Timone Enfant, AP HM, Serv Genet Med, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceBresson, Violaine论文数: 0 引用数: 0 h-index: 0机构: Timone Enfant, AP HM, Serv Urgences Pediat, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceCano, Aline论文数: 0 引用数: 0 h-index: 0机构: Timone Enfant, AP HM, Serv Pediat Specialisee & Med Infantile, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceCoste, Marie-Edith论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone Enfants, AP HM, Serv Pediat Multidisciplinaire, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceDelteil, Clemence论文数: 0 引用数: 0 h-index: 0机构: Timone Enfant, AP HM, Serv Med Legale, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceLacoste, Caroline论文数: 0 引用数: 0 h-index: 0机构: Timone Enfant, AP HM, Serv Genet Med, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceLoosveld, Marie论文数: 0 引用数: 0 h-index: 0机构: Timone Enfant, AP HM, Lab Hematol Biol, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceDe Paula, Andre Maues论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone Enfants, AP HM, Lab Anat Pathol, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceMonnier, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone Enfants, AP HM, Serv Pediat Multidisciplinaire, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceSecq, Veronique论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Hop Nord, AP HM, U1068,CRCM,Serv Anatomo Pathol, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceLevy, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, MMG, INSERM, Marseille, France Timone Enfant, AP HM, Serv Genet Med, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceBadens, Catherine论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, MMG, INSERM, Marseille, France Timone Enfant, AP HM, Serv Genet Med, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, FranceFabre, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, MMG, INSERM, Marseille, France Hop La Timone Enfants, AP HM, Serv Pediat Multidisciplinaire, Marseille, France Aix Marseille Univ, MMG, INSERM, Marseille, France
- [23] Cole disease due to a novel pathogenic variant in the ENPP1 geneJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2022, 36 (07) : E559 - E561Nanda, A.论文数: 0 引用数: 0 h-index: 0机构: Asad Al Hamad Dermatol Ctr, Kuwait, Kuwait Asad Al Hamad Dermatol Ctr, Kuwait, KuwaitXiong, X.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Fac Med, Bonn, Germany Univ Hosp, Bonn, Germany Asad Al Hamad Dermatol Ctr, Kuwait, KuwaitAlLafi, A.论文数: 0 引用数: 0 h-index: 0机构: Asad Al Hamad Dermatol Ctr, Kuwait, Kuwait Asad Al Hamad Dermatol Ctr, Kuwait, KuwaitCesarato, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Fac Med, Bonn, Germany Univ Hosp, Bonn, Germany Asad Al Hamad Dermatol Ctr, Kuwait, KuwaitBetz, R. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Fac Med, Bonn, Germany Univ Hosp, Bonn, Germany Asad Al Hamad Dermatol Ctr, Kuwait, Kuwait
- [24] A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese familyBRAIN, 2019, 142Li, Jia-Qi论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Res Ctr Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Key Lab Med Neurobiol Zhejiang Prov, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R ChinaDong, Hai-Lin论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Res Ctr Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Key Lab Med Neurobiol Zhejiang Prov, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R ChinaChen, Cong-Xin论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Res Ctr Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Key Lab Med Neurobiol Zhejiang Prov, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R ChinaWu, Zhi-Ying论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Res Ctr Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Key Lab Med Neurobiol Zhejiang Prov, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China
- [25] In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani familyGENE REPORTS, 2019, 16Mehmood, Sarmad论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, Pakistan Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, PakistanHarlalka, Gaurav V.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, RILD Wellcome Wolfson Ctr, Level 4,Barrack Rd, Exeter EX2 5DW, Devon, England Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, PakistanDad, Rubina论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, Pakistan Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, PakistanChioza, Barry A.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, RILD Wellcome Wolfson Ctr, Level 4,Barrack Rd, Exeter EX2 5DW, Devon, England Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, PakistanUllah, Muhammad I.论文数: 0 引用数: 0 h-index: 0机构: Jouf Univ, Coll Appl Med Sci, Dept Clin Lab Sci, Al Jawf, Saudi Arabia Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, PakistanAhmad, Arsalan论文数: 0 引用数: 0 h-index: 0机构: Shifa Tameer E Millat Univ, Shifa Int Hosp, Div Neurol, Islamabad, Pakistan Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, PakistanCrosby, Andrew H.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, RILD Wellcome Wolfson Ctr, Level 4,Barrack Rd, Exeter EX2 5DW, Devon, England Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, PakistanBaple, Emma L.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, RILD Wellcome Wolfson Ctr, Level 4,Barrack Rd, Exeter EX2 5DW, Devon, England Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, PakistanHassan, Muhammad J.论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, Pakistan Natl Univ Med Sci, Dept Biol Sci, Mall Rd, Rawalpindi 46000, Pakistan Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci, Islamabad 44000, Pakistan
- [26] Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor NeuropathyNEUROLOGY-GENETICS, 2023, 9 (01)Smith, Ian C.论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp Res Inst, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaPileggi, Chantal A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Fac Med, Dept Biochem Microbiol & Immunol, Ottawa, ON, Canada Univ Ottawa, Ottawa Inst Syst Biol, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaWang, Ying论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaKernohan, Kristin论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Univ Ottawa, Newborn Screening Ontario, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaHartley, Taila论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaMcMillan, Hugh J.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Pediat Neurol,Nerosurg, Montreal, PQ, Canada Ottawa Hosp Res Inst, Ottawa, ON, Canada论文数: 引用数: h-index:机构:Melkus, Gerd论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp Res Inst, Ottawa, ON, Canada Univ Ottawa, Dept Radiol, Radiat Oncol & Med Phys, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaWoulfe, John论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp, Dept Lab Med, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaParmar, Gaganvir论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Fac Med, Dept Biochem Microbiol & Immunol, Ottawa, ON, Canada Univ Ottawa, Ottawa Inst Syst Biol, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaBourque, Pierre R.论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp, Dept Med Neurol, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaBreiner, Ari论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp Res Inst, Ottawa, ON, Canada Ottawa Hosp, Dept Med Neurol, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Fac Med, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaZwicker, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp Res Inst, Ottawa, ON, Canada Ottawa Hosp, Dept Med Neurol, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaPringle, C. Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp, Dept Med Neurol, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaJarinova, Olga论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp Res Inst, Ottawa, ON, Canada McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Ottawa Hosp, Dept Med Neurol, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Fac Med, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaDyment, David A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Univ Ottawa, Brain & Mind Res Inst, Fac Med, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaBrais, Bernard论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst & Hosp, Dept Neurol & Neurosurg, Quebec City, PQ, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaBoycott, Kym M.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Univ Ottawa, Brain & Mind Res Inst, Fac Med, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaHekimi, Siegfried论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaHarper, Mary-Ellen论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Fac Med, Dept Biochem Microbiol & Immunol, Ottawa, ON, Canada Univ Ottawa, Ottawa Inst Syst Biol, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, CanadaWarman-Chardon, Jodi论文数: 0 引用数: 0 h-index: 0机构: Ottawa Hosp Res Inst, Ottawa, ON, Canada McGill Univ, Childrens Hosp Eastern, Ontario Res Inst, Dept Biol, Montreal, PQ, Canada Ottawa Hosp, Dept Med Neurol, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Fac Med, Ottawa, ON, Canada Ottawa Hosp Res Inst, Ottawa, ON, Canada
- [27] Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy - A new distal hereditary motor neuropathy phenotypeNEUROMUSCULAR DISORDERS, 2009, 19 (06) : 427 - 428Haberlova, J.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Sch Med 2, Dept Child Neurol, DNA Lab, Prague 15200 5, Czech Republic Charles Univ Prague, Sch Med 2, Dept Child Neurol, DNA Lab, Prague 15200 5, Czech RepublicClaeys, K. G.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, F-75634 Paris, France Charles Univ Prague, Sch Med 2, Dept Child Neurol, DNA Lab, Prague 15200 5, Czech RepublicDe Jonghe, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium Charles Univ Prague, Sch Med 2, Dept Child Neurol, DNA Lab, Prague 15200 5, Czech RepublicSeeman, P.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Sch Med 2, Dept Child Neurol, DNA Lab, Prague 15200 5, Czech Republic Charles Univ Prague, Sch Med 2, Dept Child Neurol, DNA Lab, Prague 15200 5, Czech Republic
- [28] Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variantsNEUROMUSCULAR DISORDERS, 2020, 30 (07) : 572 - 575Ma, Maxwell T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, 1660 S Columbian Way S127, Seattle, WA 98195 USA VA Puget Sound Med Ctr, Dept Neurol, Seattle, WA USA Univ Washington, Dept Neurol, 1660 S Columbian Way S127, Seattle, WA 98195 USAChen, Dong-Hui论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, 1660 S Columbian Way S127, Seattle, WA 98195 USA Univ Washington, Dept Neurol, 1660 S Columbian Way S127, Seattle, WA 98195 USARaskind, Wendy H.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Seattle, WA 98195 USA Dept Psychiat & Behav Sci, Seattle, WA USA VA Med Ctr, GRECC, Seattle, WA USA VA Med Ctr, MIRECC, Seattle, WA USA Univ Washington, Dept Neurol, 1660 S Columbian Way S127, Seattle, WA 98195 USABird, Thomas D.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, 1660 S Columbian Way S127, Seattle, WA 98195 USA Univ Washington, Dept Med, Seattle, WA 98195 USA Dept Psychiat & Behav Sci, Seattle, WA USA VA Med Ctr, GRECC, Seattle, WA USA Univ Washington, Dept Neurol, 1660 S Columbian Way S127, Seattle, WA 98195 USA
- [29] Thirty-three Years to Diagnosis: Distal Hereditary Motor Neuropathy Type VA with a Novel Variant in BSCL2NEUROLOGY, 2021, 96 (15)Herbst, John论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Neurol, Danville, PA USA Geisinger, Neurol, Danville, PA USAAvila, David论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Ctr, Neurol, Danville, PA 17822 USA Geisinger, Neurol, Danville, PA USAWilliamson, Madeline论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Ctr, Autism & Dev Med Inst, Danville, PA 17822 USA Geisinger, Neurol, Danville, PA USA
- [30] DISTAL HEREDITARY MOTOR NEUROPATHY: A BRAZILIAN COHORT STUDYJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S137 - S137Tomaselli, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Clin Hosp Ribeirao Preto, Ribeirao Preto, Brazil Univ Sao Paulo, Clin Hosp Ribeirao Preto, Ribeirao Preto, BrazilFrezatti, Rodrigo论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Clin Hosp Ribeirao Preto, Ribeirao Preto, BrazilFigueiredo, Fernanda论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto, Brazil Univ Sao Paulo, Clin Hosp Ribeirao Preto, Ribeirao Preto, BrazilGouvea, Silmara论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Clin Hosp Ribeirao Preto, Ribeirao Preto, Brazil Univ Sao Paulo, Clin Hosp Ribeirao Preto, Ribeirao Preto, BrazilReilly, Mary论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Sao Paulo, Clin Hosp Ribeirao Preto, Ribeirao Preto, BrazilMarques, Wilson, Jr.论文数: 0 引用数: 0 h-index: 0机构: Sao Paulo State Univ, Sch Med Ribeirao Preto, Ribeirao Preto, Brazil Univ Sao Paulo, Clin Hosp Ribeirao Preto, Ribeirao Preto, Brazil