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Archives of Neurology|June 16, 2005
Anti-MuSK myasthenia gravis presenting with purely ocular findingsJames B Caress, Christopher H Hunt, Sat Dev BatishJournal of Neuroimmunology|September 13, 2021
Limbic encephalitis in a child with ovarian teratoma and influenza B. Case report and critical review of the history of autoimmune anti-N-methyl-d-aspartate receptor encephalitisOliver Phillips, Teddi Tubre, Hillary Lorenco, et al.American Journal of Medical Genetics. Part A|October 23, 2024
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published CasesZöe Powis, Jonathon Lutz, Khalida Liaquat, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2011
Technical standards and guidelines for spinal muscular atrophy testingThomas W Prior, Narasimhan Nagan, Elaine A Sugarman, et al.Neurogenetics|June 10, 2010
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth diseaseClaudia Gonzaga-Jauregui, Feng Zhang, Charles F Towne, et al.Nature Genetics|June 23, 2009
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humansFeng Zhang, Mehrdad Khajavi, Anne M Connolly, et al.Neuromuscular Disorders : NMD|July 13, 2010
Novel MPZ mutations and congenital hypomyelinating neuropathyHugh J McMillan, Sandro Santagata, Frederic Shapiro, et al.Journal of Clinical Neuromuscular Disease|June 3, 2010
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotypeSailaja Golla, Satish Agadi, Dennis K Burns, et al.British Journal of Haematology|September 22, 2005
GST genotype may modify clinical phenotype in patients with Fanconi anaemiaStella M Davies, Gretchen A Radloff, Todd E DeFor, et al.Blood|October 24, 2002
A 20-year perspective on the International Fanconi Anemia Registry (IFAR)David I Kutler, Bhuvanesh Singh, Jaya Satagopan, et al.Pageof 4