Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
AJNR 41:1126-1130, Mabray, M.C.,et al, 2020
A Teenager with Persistent Headache
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Neuromyelitis Optica Spectrum Disorders
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Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
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Familial Neuromyelitis Optica
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Spinal Muscular Atrophy
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Dopamine-Responsive Dystonia
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Hereditary Motor and Sensory Neuropathies
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Primary Brain Tumours in Adults
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Familial Neuromyelitis Optica (Devics Syndrome) with Late Onset in Japan
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Cerebral Venous Thrombosis:Role of Activated Protein C Resistance and Factor V Gene Mutation
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Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Monomelic Amyotrophy
Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994
Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
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Chronic Neurodegenerative Disease Associated with HTLV-II Infection
Lancet 339:645-646, Hjelle,B.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Brain Tumors
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Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
Arch Int Med 150:2395-2399, Zoppi,M.,et al, 1990
Congenital Muscular Dystrophy
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Familial Cavernous Malformations of the Central Nervous System & Retina
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