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Alzheimers Disease
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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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Neurological Management of Von Hippel-Lindau Disease
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Aicardi-Gouti�res Syndrome
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Unusual Variants of Alexander's Disease
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New Players in the Genetics of Stroke
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
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Clinical Genetics in Neurological Disease
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The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
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Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
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Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
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Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
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Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
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Predictive Testing for Wilson's Disease Using Tightly Linked and Flanking DNA Markers
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
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The Triumph of Linkage Analysis, Editorial
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
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Spinal Muscular Atrophies
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Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Criteria for Establishing the Validity of Genetic Recombination in Myotonic Dystrophy
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Homing in on Wilson's Disease
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
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Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
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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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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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