Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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The Autosomal Recessive Cerebellar Ataxias
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An unusual cause of stroke and hypoxia
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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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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Genetics of Parkinsons Disease and Parkinsonism
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Genetic Screening for a Single Common LRRK2 Mutation in Familial Parkinson's Disease
Lancet 365:410-412, Nichols, W.C., et al, 2005
Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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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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Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
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Predictive Testing for Huntington's Disease, Progress and Problems
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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