A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Clinical Reasoning: A Teenager with Left Arm Weakness
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Familial Long Thoracic Nerve Palsy:A Manifestation of Brachial Plexus Neuropathy
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Parkinson Disease Subtypes
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Neurofibromatosis Type 2
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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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Mitochondrial DNA Polymerase-y and Human Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Inherited Primary Peripheral Neuropathies
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Tangier Disease in a Black Patient:An Unusual Clinical Presentation
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Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
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Mitochondrial DNA and Genetic Disease
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Familial Spastic Paraplg, Peroneal Neuropathy, & Crural Hypopig, A New Neurocut Synd
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Abnormalties In Cultured Muscle & Periphral Nerve Of A Patient With Adrenomyeloneuropathy
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Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
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Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
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Epidemiology of Motor-Neuron Diseases
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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
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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