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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Neurofibromatosis Type 2
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Neurologic Manifestations of von Hippel-Lindau Disease
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Facial Nerve is Liable to Pressure Palsy
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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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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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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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Clinical Genetics in Neurological Disease
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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Inherited Primary Peripheral Neuropathies
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Wilson Disease
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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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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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Corneal Opacification in Infancy
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