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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Neurological Management of Von Hippel-Lindau Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Tuberous Sclerosis
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Neurologic Manifestations of von Hippel-Lindau Disease
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The Tuberous Sclerosis Complex
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Mucolipidosis Type IV; Characteristic MRI Findings
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Cockayne Syndrome: Review of 140 Cases
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Joubert Syndrome:A Clinico-Radiological Study
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
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Retinitis Pigmentosa
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Familial Cavernous Malformations of the Central Nervous System & Retina
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Von Hippel-Lindau Disease in an Adolescent
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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Genetic Counseling in Retinitis Pigmentosa
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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