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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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The Limbic-Girdle Muscular Dystrophies
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Hyperostosis Cranialis Interna
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Central Core Disease, Clinical Features in 13 Patients
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Familial Recurrent Bell's Palsy with Ocular Motor Palsies
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
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Familial Recurrent Peripheral Facial Palsy
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Congenital Myotonic Dystrophy
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Duane Syndrome & Congential Upper-Limb Anomalies:A Familial Occurrence
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Neurofibromatosis Type 2
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Dystonia
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Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Juvenile Diabetes Mellitus & Optic Atrophy
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Bilateral Hearing Loss and Constricted Visual Fields
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Spinal Muscular Atrophy
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 53-year-old Woman with Lower Extremity Paresthesias
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Clinical Reasoning: A Teenager with Left Arm Weakness
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A Neonate with Micrognathia and Hypotonia
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Hydrocephalus in Children
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A Young Man with Progressive Vision and Hearing Loss
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Neurological Management of Von Hippel-Lindau Disease
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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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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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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