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Neuroimaging Features of Biotinidase Deficiency
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Diagnosis and New Treatments in Muscular Dystrophies
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A Variant in the HS1-BP3 Gene is Associated with Familial Essential Tremor
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The Hereditary Spastic Paraplegias
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Clinical and Genetic Aspects of Distal Myopathies
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Hereditary Spastic Paraparesis: A Review of New Developments
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Hereditary Hemorrhagic Telangiectasia
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