TETSUO ASHIZAWA to Humans
This is a "connection" page, showing publications TETSUO ASHIZAWA has written about Humans.
Connection Strength
1.190
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Extended haplotype with rs41524547-G defines the ancestral origin of SCA10. Hum Mol Genet. 2024 09 03; 33(18):1567-1574.
Score: 0.024
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Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023 04 25; 100(17):e1836-e1848.
Score: 0.021
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Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions. Cells. 2022 05 06; 11(9).
Score: 0.020
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Comparing loss of balance and functional capacity among patients with SCA2, SCA3 and SCA10. Clin Neurol Neurosurg. 2022 03; 214:107150.
Score: 0.020
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DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases. Neurotherapeutics. 2021 07; 18(3):1710-1728.
Score: 0.019
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Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population. Cerebellum. 2021 12; 20(6):946-947.
Score: 0.019
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Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients. Parkinsonism Relat Disord. 2020 09; 78:73-78.
Score: 0.018
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Cancer frequency in patients with spinocerebellar ataxia type 10. Parkinsonism Relat Disord. 2020 07; 76:1-2.
Score: 0.018
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Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism Relat Disord. 2020 07; 76:76-77.
Score: 0.017
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Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families. Cerebellum. 2019 Oct; 18(5):849-854.
Score: 0.017
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Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. Clin Neurol Neurosurg. 2019 Sep; 184:105427.
Score: 0.017
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Intravenously Administered Novel Liposomes, DCL64, Deliver Oligonucleotides to Cerebellar Purkinje Cells. Cerebellum. 2019 Feb; 18(1):99-108.
Score: 0.016
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Spinocerebellar ataxias: prospects and challenges for therapy development. Nat Rev Neurol. 2018 10; 14(10):590-605.
Score: 0.016
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A crystal ball for survival for spinocerebellar ataxias? Lancet Neurol. 2018 04; 17(4):292-294.
Score: 0.015
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Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. PLoS One. 2017; 12(4):e0175958.
Score: 0.014
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SPG7 and Impaired Emotional Communication. Cerebellum. 2017 04; 16(2):595-598.
Score: 0.014
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RNA toxicity and foci formation in microsatellite expansion diseases. Curr Opin Genet Dev. 2017 Jun; 44:17-29.
Score: 0.014
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Ataxia. Continuum (Minneap Minn). 2016 Aug; 22(4 Movement Disorders):1208-26.
Score: 0.014
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SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure. PLoS One. 2015; 10(8):e0135906.
Score: 0.013
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Primary and secondary ataxias. Curr Opin Neurol. 2015 Aug; 28(4):413-22.
Score: 0.013
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Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells. Stem Cells. 2015 Jun; 33(6):1829-38.
Score: 0.013
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Dynamic changes of nuclear RNA foci in proliferating DM1 cells. Histochem Cell Biol. 2015 Jun; 143(6):557-64.
Score: 0.012
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Ataxia. Neurol Clin. 2015 Feb; 33(1):225-48.
Score: 0.012
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Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis. 2013 Nov 13; 8:177.
Score: 0.011
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Spinocerebellar ataxia type 10: from Amerindians to Latin Americans. Curr Neurol Neurosci Rep. 2013 Nov; 13(11):393.
Score: 0.011
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Purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10. J Neurol Neurosurg Psychiatry. 2013 Dec; 84(12):1409-11.
Score: 0.011
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Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis. Cell Reprogram. 2013 Apr; 15(2):166-77.
Score: 0.011
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Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro. J Mol Neurosci. 2013 Oct; 51(2):237-48.
Score: 0.011
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Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H). Neurology. 2012 Sep 11; 79(11):1181-2.
Score: 0.010
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GGCCTG repeats put a hex on Purkinje cells and motor neurons in SCA36. Neurology. 2012 Jul 24; 79(4):302-3.
Score: 0.010
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Spinocerebellar ataxia type 10. Handb Clin Neurol. 2012; 103:507-19.
Score: 0.010
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Myotonic dystrophy types 1 and 2. Handb Clin Neurol. 2011; 101:193-237.
Score: 0.009
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Headaches and the blues: a shared genetic association between migraine and depression. Neurology. 2010 Jan 26; 74(4):278-9.
Score: 0.009
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How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2. Neurology. 2009 Feb 10; 72(6):484-5.
Score: 0.008
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Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family. Neurology. 2007 Jul 10; 69(2):216-8.
Score: 0.007
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The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology. 2006 Aug 22; 67(4):607-13.
Score: 0.007
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Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias. Neurology. 2025 Sep 09; 105(5):e213980.
Score: 0.006
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The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA). Cerebellum. 2025 Jul 18; 24(5):134.
Score: 0.006
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Fixel-Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia. Ann Clin Transl Neurol. 2025 Sep; 12(9):1846-1857.
Score: 0.006
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Suicidal Ideation in Spinocerebellar Ataxia. J Neuropsychiatry Clin Neurosci. 2026; 38(1):38-44.
Score: 0.006
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The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10. J Neurol. 2025 Mar 11; 272(4):261.
Score: 0.006
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Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia. Mov Disord. 2025 May; 40(5):917-927.
Score: 0.006
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ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy. Cerebellum. 2025 Jan 16; 24(2):33.
Score: 0.006
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Recent progress in spinocerebellar ataxia type-10 (SCA10). Cerebellum. 2005; 4(1):37-42.
Score: 0.006
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Emerging therapies in hereditary ataxias. Trends Mol Med. 2025 Feb; 31(2):181-194.
Score: 0.006
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Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six?Months in Early Spinocerebellar Ataxia. Mov Disord. 2024 Oct; 39(10):1856-1867.
Score: 0.006
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SARA captures disparate progression and responsiveness in spinocerebellar ataxias. J Neurol. 2024 Jul; 271(7):3743-3753.
Score: 0.006
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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 Jun; 74(6):1216-24.
Score: 0.006
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Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias. Mov Disord Clin Pract. 2024 May; 11(5):496-503.
Score: 0.006
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The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. Cerebellum. 2024 Aug; 23(4):1411-1425.
Score: 0.006
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Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases. Neurology. 2003 Nov 25; 61(10):1330-1.
Score: 0.006
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Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography. Mov Disord. 2023 06; 38(6):978-989.
Score: 0.005
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Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome. Arch Neurol. 2003 Apr; 60(4):502-3.
Score: 0.005
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SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias. Cerebellum. 2024 Jun; 23(3):887-895.
Score: 0.005
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Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. Lancet Neurol. 2023 03; 22(3):218-228.
Score: 0.005
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SCA10 and ATTCT repeat expansion: clinical features and molecular aspects. Cytogenet Genome Res. 2003; 100(1-4):184-8.
Score: 0.005
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Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3. Ann Neurol. 2023 04; 93(4):686-701.
Score: 0.005
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The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. Cerebellum. 2023 Oct; 22(5):790-809.
Score: 0.005
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Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol. 2002 Aug; 59(8):1285-90.
Score: 0.005
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Genetic ataxia. Neurol Clin. 2002 Aug; 20(3):727-57, vii.
Score: 0.005
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Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective. Mov Disord. 2022 06; 37(6):1125-1130.
Score: 0.005
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Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 2002 Mar 26; 58(6):983-4.
Score: 0.005
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Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation. Muscle Nerve. 2022 05; 65(5):560-567.
Score: 0.005
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Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. Ann Neurol. 2002 Feb; 51(2):271-2.
Score: 0.005
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Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions. Nat Rev Neurol. 2022 03; 18(3):145-157.
Score: 0.005
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Myotonic dystrophies. Adv Neurol. 2002; 88:293-314.
Score: 0.005
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Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion. Adv Exp Med Biol. 2002; 516:79-97.
Score: 0.005
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[Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion]. Rinsho Shinkeigaku. 2001 Dec; 41(12):1120-2.
Score: 0.005
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Reply to: "Cognitive Impairments in Spinocerebellar Ataxia Type 10 and Their Relation to Cortical Thickness". Mov Disord. 2021 12; 36(12):2977.
Score: 0.005
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CCG?CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. EMBO Mol Med. 2021 11 08; 13(11):e14095.
Score: 0.005
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Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis. Mov Disord. 2022 01; 37(1):171-181.
Score: 0.005
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What is Kearns-Sayre syndrome after all? Arch Neurol. 2001 Jul; 58(7):1053-4.
Score: 0.005
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Alcohol dehydrogenase polymorphism and Parkinson's disease. Neurosci Lett. 2001 Jun 01; 305(1):70-2.
Score: 0.005
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"Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Hum Mol Genet. 2001 Apr 01; 10(8):855-63.
Score: 0.005
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Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion. Epilepsia Open. 2021 03; 6(1):102-111.
Score: 0.005
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Genetic testing in spinocerebellar ataxias: defining a clinical role. Arch Neurol. 2001 Feb; 58(2):191-5.
Score: 0.005
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A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology. 2000 Dec 12; 55(11):1697-703.
Score: 0.005
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Balance and physical functioning in Spinocerebellar ataxias 3 and 10. Acta Neurol Scand. 2021 Apr; 143(4):458-463.
Score: 0.005
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Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. Ann Neurol. 2020 12; 88(6):1132-1143.
Score: 0.005
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 Oct; 26(2):191-4.
Score: 0.005
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Variability and validity of polymorphism association studies in Parkinson's disease. Neurology. 2000 Aug 22; 55(4):533-8.
Score: 0.004
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Primary coenzyme Q10 deficiency due to COQ8A gene mutations. Mol Genet Genomic Med. 2020 10; 8(10):e1420.
Score: 0.004
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Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. Cerebellum. 2020 Jun; 19(3):446-458.
Score: 0.004
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Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. J Neurol Sci. 2020 Aug 15; 415:116878.
Score: 0.004
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Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. PLoS One. 2020; 15(4):e0231000.
Score: 0.004
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Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis. Proc Natl Acad Sci U S A. 2020 04 07; 117(14):8154-8165.
Score: 0.004
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Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor? Neurology. 2000 Mar 14; 54(5):1195-8.
Score: 0.004
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Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10. PLoS One. 2020; 15(3):e0228789.
Score: 0.004
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The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism Relat Disord. 2020 03; 72:37-43.
Score: 0.004
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Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum Mol Genet. 1999 Dec; 8(13):2473-8.
Score: 0.004
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Proton magnetic resonance spectroscopy: an in vivo window to study neurodegenerative disorders. Arch Neurol. 1999 Dec; 56(12):1446-7.
Score: 0.004
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Repeats may not be everything in anticipation. Neurology. 1999 Oct 12; 53(6):1164-5.
Score: 0.004
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Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum. 2019 Jun; 18(3):519-526.
Score: 0.004
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Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription. Elife. 2019 04 17; 8.
Score: 0.004
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Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol. 1999 Mar; 45(3):407-11.
Score: 0.004
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Olfactory Function in SCA10. Cerebellum. 2019 Feb; 18(1):85-90.
Score: 0.004
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Getting a grip on the myotonic dystrophies. Neurology. 1999 Jan 01; 52(1):12-3.
Score: 0.004
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The G209A mutation in the alpha-synuclein gene is not detected in familial cases of Parkinson disease in non-Greek and/or Italian populations. Arch Neurol. 1998 Dec; 55(12):1521-3.
Score: 0.004
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Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. Neurobiol Aging. 2019 03; 75:225.e1-225.e8.
Score: 0.004
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SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F. EMBO J. 2018 10 01; 37(19).
Score: 0.004
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Therapeutic Genome Editing for Myotonic Dystrophy Type 1?Using CRISPR/Cas9. Mol Ther. 2018 Nov 07; 26(11):2617-2630.
Score: 0.004
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Delayed diagnosis of Friedreich's ataxia due to coexisting recessive deaf/blind syndrome. Neurology. 1998 Jun; 50(6):1924-5.
Score: 0.004
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Body composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group. Nutr Neurosci. 2020 Jan; 23(1):49-54.
Score: 0.004
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Sleep disorders in spinocerebellar ataxia type 10. J Sleep Res. 2018 10; 27(5):e12688.
Score: 0.004
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Intron retention induced by microsatellite expansions as a disease biomarker. Proc Natl Acad Sci U S A. 2018 04 17; 115(16):4234-4239.
Score: 0.004
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Spinocerebellar ataxias type 3 and 10: Onset and progression of ataxia during pregnancy and puerperium. Parkinsonism Relat Disord. 2018 07; 52:119-120.
Score: 0.004
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Myotonic dystrophy as a brain disorder. Arch Neurol. 1998 Mar; 55(3):291-3.
Score: 0.004
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Antitumor activity of KW-2170, a novel pyrazoloacridone derivative. Anticancer Drugs. 1998 Mar; 9(3):263-71.
Score: 0.004
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Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia [RETIRED]: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2018 03 06; 90(10):464-471.
Score: 0.004
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Instability of the (CTG)n repeat in congenital myotonic dystrophy. Am J Hum Genet. 1997 Dec; 61(6):1445-8.
Score: 0.004
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[Instability of myotonic dystrophy CTG trinucleotide repeat]. Rinsho Shinkeigaku. 1997 Dec; 37(12):1151.
Score: 0.004
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Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10. Cerebellum. 2017 Dec; 16(5-6):938-944.
Score: 0.004
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C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. Mov Disord. 2018 03; 33(3):497-498.
Score: 0.004
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Dystonia and ataxia progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 2017 Dec; 45:75-80.
Score: 0.004
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Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias. Tremor Other Hyperkinet Mov (N Y). 2017; 7:492.
Score: 0.004
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RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. Neuron. 2017 Sep 13; 95(6):1292-1305.e5.
Score: 0.004
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A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10. Cerebellum. 2017 08; 16(4):797-801.
Score: 0.004
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The Initial Symptom and Motor Progression in Spinocerebellar Ataxias. Cerebellum. 2017 06; 16(3):615-622.
Score: 0.004
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Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. Brain. 2017 04 01; 140(4):e25.
Score: 0.004
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ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis. Ann Neurol. 2016 10; 80(4):600-15.
Score: 0.003
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[A case report of volatile solvent psychosis]. Nihon Arukoru Yakubutsu Igakkai Zasshi. 1996 Oct; 31(5):475-82.
Score: 0.003
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Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy. Genomics. 1996 Aug 15; 36(1):47-53.
Score: 0.003
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Cervical dystonia as the initial presentation of Huntington's disease. Mov Disord. 1996 Jul; 11(4):457-9.
Score: 0.003
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Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6. Brain Struct Funct. 2017 03; 222(2):1039-1052.
Score: 0.003
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Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy. Mol Ther. 2016 08; 24(8):1378-87.
Score: 0.003
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(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. Brain. 2016 08; 139(Pt 8):e41.
Score: 0.003
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Rare neurological channelopathies--networks to study patients, pathogenesis and treatment. Nat Rev Neurol. 2016 Apr; 12(4):195-203.
Score: 0.003
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Emerging therapies in Friedreich's ataxia. Neurodegener Dis Manag. 2016; 6(1):49-65.
Score: 0.003
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High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression. Cerebellum. 2015 Dec; 14(6):677-81.
Score: 0.003
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Characteristics of the antitumor activity of M-16 and M-18, major metabolites of a new mitomycin C derivative KW-2149, in mice. Anticancer Drugs. 1995 Dec; 6(6):763-70.
Score: 0.003
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Depression and clinical progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 2016 Jan; 22:87-92.
Score: 0.003
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Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection. Arq Neuropsiquiatr. 2015 Aug; 73(8):725-7.
Score: 0.003
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Emotional and functional impact of DNA testing on patients with symptoms of Huntington's disease. J Med Genet. 1995 Jul; 32(7):516-8.
Score: 0.003
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Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China. PLoS One. 2015; 10(6):e0130336.
Score: 0.003
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Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015 Aug 15; 355(1-2):3-6.
Score: 0.003
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De novo myotonic dystrophy mutation in a Nigerian kindred. Am J Hum Genet. 1995 May; 56(5):1067-74.
Score: 0.003
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Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study. J Neuroophthalmol. 2015 Mar; 35(1):16-21.
Score: 0.003
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Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. PLoS One. 2015; 10(2):e0117488.
Score: 0.003
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The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis. PLoS Genet. 2015 Jan; 11(1):e1004749.
Score: 0.003
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Bolivian kindred with combined spinocerebellar ataxia types 2 and 10. Acta Neurol Scand. 2015 Aug; 132(2):139-42.
Score: 0.003
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Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. PLoS Genet. 2015 Jan; 11(1):e1004834.
Score: 0.003
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Tourettism associated with Huntington's disease. Mov Disord. 1995 Jan; 10(1):103-5.
Score: 0.003
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Coenzyme Q10 and spinocerebellar ataxias. Mov Disord. 2015 Feb; 30(2):214-20.
Score: 0.003
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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep; 137(Pt 9):2444-55.
Score: 0.003
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Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease. J Neurol. 2014 Sep; 261(9):1691-4.
Score: 0.003
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CAG repeat size and clinical presentation in Huntington's disease. Neurology. 1994 Jun; 44(6):1137-43.
Score: 0.003
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Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum. 2014 Apr; 13(2):269-302.
Score: 0.003
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Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet. 1994 Mar; 54(3):414-23.
Score: 0.003
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Mapping of the polypeptide chain organization of the main extracellular domain of the alpha-subunit in membrane-bound acetylcholine receptor by antipeptide antibodies spanning the entire domain. Adv Exp Med Biol. 1994; 347:221-8.
Score: 0.003
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Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology. 1994 Jan; 44(1):120-2.
Score: 0.003
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Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 2014 Mar; 15(1):59-64.
Score: 0.003
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Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. Cerebellum. 2013 Dec; 12(6):932-6.
Score: 0.003
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Somatic instability of CTG repeat in myotonic dystrophy. Neurology. 1993 Dec; 43(12):2674-8.
Score: 0.003
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Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. PLoS One. 2013; 8(11):e81342.
Score: 0.003
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Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscul Disord. 2014 Mar; 24(3):227-40.
Score: 0.003
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Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. PLoS One. 2013; 8(10):e76749.
Score: 0.003
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Diagnostic odyssey of patients with myotonic dystrophy. J Neurol. 2013 Oct; 260(10):2497-504.
Score: 0.003
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Analysis of the visual system in Friedreich ataxia. J Neurol. 2013 Sep; 260(9):2362-9.
Score: 0.003
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Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiol Aging. 2013 Oct; 34(10):2442.e11-7.
Score: 0.003
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Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 2013 Nov; 14(3-4):173-9.
Score: 0.003
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Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet. 2013 Nov; 21(11):1272-6.
Score: 0.003
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Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids. Arq Neuropsiquiatr. 2013 Jan; 71(1):66.
Score: 0.003
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Profile of the regions on the alpha-chain of human acetylcholine receptor recognized by autoantibodies in myasthenia gravis. Mol Immunol. 1992 Dec; 29(12):1507-14.
Score: 0.003
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Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings. Neurology. 1992 Oct; 42(10):1871-7.
Score: 0.003
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