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Showing articles 0 to 15 of 15 Filter Applied: chromosomal abnormality (Click to remove) The Cornelia de Lange Syndrome J Pediatr 63:1000-1020, Ptacek,L.J., 1963 A 6-Year-Old Girl with Progressive Toe Walking Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022 A Middle-aged Woman with Severe Scoliosis and Encephalopathy JAMA Neurol 78:251-252, Mohan, G.,et al, 2021 Huntington Disease: Clinical Features and Diagnosis UptoDate Dec 2017, Oksana Suchowersky, 2017 Neurofibromatosis Type 2 Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009 Dopamine-Responsive Dystonia eMedicine (Apr), Nikhar,N.K., 2006 Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome NEJM 348:33-40, Hayflick,S.J.,et al, 2003 The Hereditary Spastic Paraplegias Arch Neurol 60:1045-1049, Fink,J.K., 2003 Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype NEJM 347:672-680, Case 27-2002, 2002 Distal Myopathies:Clinical and Molecular Diagnosis and Classification JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999 Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996 Wilson Disease Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992 Angelman Syndrome: Clinical Profile J Child Neurol 7:270-280, Zori,R.T.,et al, 1992 Cockayne Syndrome: Review of 140 Cases Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992 Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987 Showing articles 0 to 15 of 15