Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Friedreich Ataxia
Arch Neurol 59:743-747, Lynch,D.R.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
JAMA 274:1627-1629, Farrer,L.A.,et al, 1995
Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991