Genetic Screening for a Single Common LRRK2 Mutation in Familial Parkinson's Disease
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Jaw Drop in Kennedy's Disease
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Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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A 54-year-old man with Dyspnea and Muscle Weakness
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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A Neonate with Micrognathia and Hypotonia
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
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Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003
Identification of New Presenilin Gene Mutations in Early-Onset Familial Alzheimer Disease
Arch Neurol 60:1541-1544,1521, Tedde,A.,et al, 2003
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Family History and DNA Analysis in Patients With Suspected Huntington's Disease
JNNP 69:54-59, Siesling,S. et al, 2000
Spinocerebellar Ataxia Type 8
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Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
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Serial Magnetic Resonance Imaging of Cerebral Atrophy in Preclinical Alzheimer's Disease
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
Ann Neurol 46:671-678, Peiffer,A.,et al, 1999
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
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Bent Spine Syndrome
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Adult-Onset MELAS
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Diagnosis of Patients Presenting to a Huntington Disease (HD) Clinic without a Family History of HD
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Hereditary Late-Onset Chorea Without Significant Dementia:Genetic Evid for Phenotypic Variation in Huntington's Disease
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Benign Familial Disease with Muscle Mounding and Rippling
JNNP 57:344-347, Burns,R.J.,et al, 1994
Brief Report:Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
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Diagnostic Tests for Choreoacanthocytosis
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Congenital Muscular Dystrophy
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