Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Paraparesis in Hereditary Multiple Exostoses:Case Report
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Hydrocephalus in Children
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Hyperostosis Cranialis Interna
NEJM 322:450-463, Manni,J.J.,et al, 1990
Neurofibromatosis Type I in Children
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982
A Surgical Approach To The Treatment Of Fetal Hydrocephalus
NEJM 306:1320-1325, Clewell,W.H.,et al, 1982
Placement Of Ventriculo-Amniotic Shunt For Hydrocephalus In A Fetus
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Familial Cavernous Angiomas
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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A 6-Year-Old Girl with Progressive Toe Walking
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Pediatric Leigh Syndrome
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Neurological Management of Von Hippel-Lindau Disease
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
Neurol 84:226-230,218, Wolf, N.I.,et al, 2015
Characyeristic features and progression of abnormalities on MRI for CARASIL
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
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Diagnosis and New Treatments in Muscular Dystrophies
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Dystonia
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Adrenoleukodystrophy
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Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Mental Retardation
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Learning Disability
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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
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Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997
The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Intelligence and the X Chromosome
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