Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990
The Triumph of Linkage Analysis, Editorial
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Linkage of DNA Markers at Xq28 to Adrenoleukodystrophy & Adrenomyeloneuropathy Present in the Same Family
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Genetic Testing for Huntington's Disease
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Prion Dementia Without Characteristic Pathology
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AIDS-Assoc Progressive Multifocal Leukoencephalopathy (PML) :Comparison to Non-AIDS PML
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
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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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Criteria for Establishing the Validity of Genetic Recombination in Myotonic Dystrophy
Neurol 39:420-421, Griggs,R.C.,et al, 1989
Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989
Predictive Testing for Huntington's Disease with Linked DNA Markers
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Uptake of Presymptomatic Predictive Testing for Huntington's Disease
Lancet 2:603-605, Craufurd,D.,et al, 1989
Homing in on Wilson's Disease
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
Lancet 2:15-17, Collinge,J.,et al, 1989
Genetic Abnormalities in Duchenne and Becker Dystrophies:Clinical Correlations
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Molecular and Clinical Correlations of Deletions Leading to Duchenne and Becker Muscular Dystrophies
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Predisposing Locus for Alzheimer's Disease on Chromosome 21
Lancet 1:352-355, Goate,A.M.,et al, 1989
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
Lancet 2:425-427, Greenberg,C.R.,et al, 1988
Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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Genetic Markers for Neurofibromatosis
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Retinitis Pigmentosa
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Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
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Prenatal Testing for Duchenne & Becker Muscular Dystrophy
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First-Trimester Prenatal Diagnosis for Huntington's Disease with DNA Probes
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Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
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Effective Strategy for Prenatal Prediction of Duchenne & Becker Muscular Dystrophy
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Genetic Linkage in Neurologic Diseases
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Prenatal Diagnosis & Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
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Location of the Gene for X-Linked Spinal Muscular Atrophy
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
A 26-Year-OldWoman with Headache and Eosinophilia
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
A 31-Year-Old Man with Sequential Vision Loss
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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A 13-Year-Old Boy with Subacute-Onset Spastic Gait
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