Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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More Than a Little Unsteady
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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, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Complex Ataxia
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Neurological Management of Von Hippel-Lindau Disease
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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The Autosomal Recessive Cerebellar Ataxias
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Angelman Syndrome: Clinical Profile
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Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
Neurol 41:429-433, Baloh,R.W.&Winder,A., 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Refsum Disease
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Rett Syndrome:Natural History and Management
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Clinical Criteria for Diagnosis of Machado-Joseph Disease:Report of a Non-Azorean Portuguese Family
Neurol 30:319-322, Lima,L.,et al, 1980
Familial Periodic Ataxia
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Azorean Disease of the Nervous System
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Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
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Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
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A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Duchenne Muscular Dystrophy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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An Unusual Fundus Finding in a Teenage Girl
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
A 28-year-old Woman with Lower Extremity Spasticity and Microcytic Anemia
Neurol 85:e11-e14, Bonda, C.,et al, 2015
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
The Hereditary Spastic Paraplegias
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