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Clinical Spectrum of CADASIL:A Study of 7 Families
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Dopamine-Responsive Dystonia
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Neuroblastoma -- from Genetic Profiles to Clinical Challenge
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999
Facial Nerve is Liable to Pressure Palsy
Neurol 51:320-322, Foloni,T.E.,et al, 1998
Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
Neurol 46:1133-1137, Pareyson,D.,et al, 1996
New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
JNNP 59:579-585, Verin,M.,et al, 1995
Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
JNNP 57:1260-1262, Silander,K.,et al, 1994
Inherited Primary Peripheral Neuropathies
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Wilson Disease
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Brain Tumors
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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Corneal Opacification in Infancy
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