A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 6-Year-Old Girl with Progressive Toe Walking
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Cockayne Syndrome: Review of 140 Cases
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Congenital Muscular Dystrophy
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Early-Onset Benign Autosomal Dominant Limb-Girdle with Contractures (Bethlem Myopathy)
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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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Congenital Myotonic Dystrophy
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Emery-Dreifuss Muscular Dystrophy
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Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
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The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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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
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The Spectrum of Fragile X Disorders
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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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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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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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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Duchenne Muscular Dystrophy
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Complex Ataxia
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Wilson Disease
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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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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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Dystonia
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Adrenoleukodystrophy
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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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SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
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Clinical and Genetic Aspects of Distal Myopathies
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Distal Hereditary Upper Limb Muscular Atrophy
JNNP 64:217-220, Gross,D.W.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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