Neuroimaging Features of Biotinidase Deficiency
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A 23-Year-Old Man With Seizures and Visual Deficit
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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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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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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The Autosomal Recessive Cerebellar Ataxias
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Sensorineural Hearing Loss in Children
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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The Hereditary Spastic Paraplegias
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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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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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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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