Spinal Muscular Atrophy
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Apolipoprotein E Genotyping in Alzheimer's Disease
Lancet 347:1091-1095, Tanzi,R.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Myotonic Dystrophy
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Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
The Psychological Consequences of Predictive Testing for Huntington's Disease
NEJM 327:1401-1405, 14491992., Wiggins,S.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983