Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Molecular Genetics in Neurology
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The Polymerase Chain Reaction:Application to Nervous System Disease
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Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
A Neonate with Micrognathia and Hypotonia
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Proton Spectroscopy in Myotonic Dystrophy, Correlations with CTG Repeats
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
JAMA 274:813-819, Tokgozoglu,L.S.,et al, 1995
Trinucleotide Repeat Expansion in Neurological Disease
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Myotonic Dystrophy
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
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GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
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New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000
Molecular Basis of the Neurodegenerative Disorders
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Progressive Atrophy of Cerebellum & Brainstem, Age & Size of Expanded CAG Repeats in the MJDI Gene in Machado-Joseph Dis
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Myotonic Dystrophy, The Role of Large Triplet Repeat Length in the Develop of Mental Retardation
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Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
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Myotonic Dystrophy with No Trinucleotide Repeat Expansion
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Late-Onset Friedreich Ataxia
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Bilateral Extraocular Muscle Atrophy in Myotonic Dystrophy Type 1
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Kennedy Disease
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Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
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Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
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Spinocerebellar Ataxia Type 8
Neurol 55:649-657, Day,J.W. et al, 2000
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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CAG Repeat Number Correlates with the Rate of Brainstem and Cerebellar Atrophy in Machado-Joseph Disease
Neurol 51:882-884, Abe,Y.,et al, 1998
Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997
CAG Repeat Number Governs the Development Rate of Pathology in Huntington's Disease
Ann Neurol 41:689-692, Penney,J.B.,et al, 1997
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Clinical and Molecular Features of Spinocerebellar Ataxia Type 6
Neurol 49:1243-1246, 11961997., Stevanin,G.,et al, 1997
Atrophy of Cerebellum & Brainstem in Dentatorubral Pallidoluysian Atrophy, CAG Repeat Size on MRI Findings
Neurol 49:1605-1612, Koide,R.,et al, 1997
Hereditary Late-Onset Chorea Without Significant Dementia:Genetic Evid for Phenotypic Variation in Huntington's Disease
Neurol 45:443-447, Britton,J.W.,et al, 1995
Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
Neurol 45:24-30, Genis,D.,et al, 1995
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
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