Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Hydrocephalus in Patients with Neurofibromatosis Type 1: MR Imaging Findings and the Outcome of Endoscopic Third Ventriculostomy
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Spinal Muscular Atrophy A Timely Review
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
Neurol 75:432-440, Mullen,S.A., et al, 2010
The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Neurofibromatosis Type 2
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Neurofibromatosis
JAMA 300:352, Torpy,J.M.,et al., 2008
Immune Reconstitution Inflammatory Syndrome in the CNS of HIV Infected Patients
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Genetic Factors in Alzheimer's Disease
NEJM 352: 862-863, 884, Bird, T., 2005
The Clinicopathological Spectrum of Rosenthal Fibre Encephalopathy and Alexanders Disease: A Case Report and Review of the Literature
JNNP 74:807-810, Jacob,J.,et al, 2003
Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
Lancet 361:1552-1554, Reynolds,R.M., et al, 2003
Multiple Sclerosis
NEJM 343:938-952, Noseworthy,J.H. et al, 2000
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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The Genetics of Alzheimer Disease, Current Status and Future Prospects
Arch Neurol 55:294-296, Blacker,D.&Tanzi,R.E., 1998
The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
JAMA 278:51-57, Gutmann,D.H.,et al, 1997
Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
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Clin Features of Early-Onset Alzheimer Disease in Large Kindred with an E280A Presenilin-1 Mutation
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Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
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Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
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Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
Ann Neurol 31:555-561, Gutmann,D.H.&Collins,F.S., 1992
Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Lisch Nodules in Neurofibromatosis Type I
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Neurofibromatosis Type I in Children
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
Ann Int Med 113:39-52, Mulvihill,J.J.,et al, 1990
Occurrence of Both Neurofibromatosis 1 and 2 in the Same Individual with a Rapidly Progressive Course
Neurol 39:282-283, Sadeh,M.,et al, 1989
Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
Neurol 39:487-492, Baptiste,M.,et al, 1989
The Diagnosis of Neurofibromatosis-1 in the Child Under the Age of 6 Years
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Genetic Markers for Neurofibromatosis
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Neurofibromatosis
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Neurofibromatosis
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Mendelian Etiologies of Stroke
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Inherited Multiple Meningiomas:A Clinical, Pathological & Cytogenetic Study of an Affected Family
JNNP 49:362-368, Battersby,R.D.E.,et al, 1986
Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
Arch Neurol 42:757-758, Trauner,D.A., 1985
Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984
Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981
Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981
A Family with Hereditary Ataxia:HLA Typing
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