Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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MELAS Presenting as Bilateral Symmetric Occipital and Temporal Cortices Lesions, A Case Report and Literature Review
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Melas Syndrome
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Congenital Asymmetric Crying Facies Syndrome, A Case Report
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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A 10-year-old boy with Bilateral Vision Loss
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
The Limbic-Girdle Muscular Dystrophies
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Neurologic Manifestations of von Hippel-Lindau Disease
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Metabolic Disease and Stroke: MELAS
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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The Tuberous Sclerosis Complex
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Myotonic Dystrophy
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Clinical Study of Nine Patients with ReNU Syndrome
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