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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Degenerative Diseases of the Nervous System, Parkinson Disease
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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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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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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