Hereditary Hemorrhagic Telangiectasia
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Anderson-Fabry Disease
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Neuroimaging Features of Biotinidase Deficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Sturge-Weber Syndrome
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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
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Recurrent Cerebral Ischemia During Pregnancies
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Ehlers-Danlos Syndromes
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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
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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An unusual cause of stroke and hypoxia
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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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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Sensorineural Hearing Loss in Children
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
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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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Creutzfeldt-Jakob Disease in a Young Woman
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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