Temat: "DNA Repeat Expansion" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro.
Autorzy:: Alvarenga MP; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil. alvarenga_.
Siciliani LC; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil.
Carvalho RS; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil.
Ganimi MC; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil.
Penna PS; Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil.; Pokaż więcej
Źródło:: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Aug; Vol. 43 (8), pp. 4997-5005. Date of Electronic Publication: 2022 Apr 25.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Peripheral Nervous System Diseases*
Spinocerebellar Ataxias*/complications
Spinocerebellar Ataxias*/diagnostic imaging
Spinocerebellar Ataxias*/epidemiology
Atrophy ; Brazil/epidemiology ; DNA Repeat Expansion ; Humans
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 2.

Tytuł:: Balance and physical functioning in Spinocerebellar ataxias 3 and 10.
Autorzy:: Konno KM; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Curitiba, Paraná, Brazil.
Zonta MB; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Curitiba, Paraná, Brazil.; Neurological Diseases Group, Postgraduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Guimarães ATB; Center for Biological and Health Sciences, State University of Western Paraná, Cascavel, Paraná, Brazil.
Camargo CHF; Neurological Diseases Group, Postgraduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Munhoz RP; Gloria and Morton Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Raskin S; Genetika - Centro de Aconselhamento e Laboratório de Genética, Curitiba, Paraná, Brazil.
Ashizawa T; Neuroscience Research Program, Houston Methodist Neurological Institute and Research Institute, Weill Cornell Medical College, Houston, Texas, USA.
Teive HAG; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Curitiba, Paraná, Brazil.; Neurological Diseases Group, Postgraduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.; Pokaż więcej
Źródło:: Acta neurologica Scandinavica [Acta Neurol Scand] 2021 Apr; Vol. 143 (4), pp. 458-463. Date of Electronic Publication: 2020 Dec 10.
Typ publikacji:: Journal Article
MeSH Terms:: Disease Progression*
Physical Functional Performance*
Postural Balance/*physiology
Spinocerebellar Ataxias/*diagnosis
Spinocerebellar Ataxias/*physiopathology
Adult ; Cross-Sectional Studies ; DNA Repeat Expansion/genetics ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies ; Severity of Illness Index ; Spinocerebellar Ataxias/genetics
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 3.

Tytuł:: A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.
Autorzy:: Faruq M; Genomics and Molecular Medicine, Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology (CSIR -IGIB), Mall Road, Delhi, India.
Magaña JJ; Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute-LGII (INR-LGII), Mexico City, Mexico.
Suroliya V; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Narang A; Genomics and Molecular Medicine, Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology (CSIR -IGIB), Mall Road, Delhi, India.
Murillo-Melo NM; Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute-LGII (INR-LGII), Mexico City, Mexico.
Hernández-Hernández O; Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute-LGII (INR-LGII), Mexico City, Mexico.
Srivastava AK; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Mukerji M; Genomics and Molecular Medicine, Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology (CSIR -IGIB), Mall Road, Delhi, India.; Pokaż więcej
Źródło:: Annals of human genetics [Ann Hum Genet] 2017 Sep; Vol. 81 (5), pp. 197-204. Date of Electronic Publication: 2017 Jun 09.
Typ publikacji:: Journal Article
MeSH Terms:: DNA Repeat Expansion*
Polymorphism, Single Nucleotide*
Ataxin-7/*genetics
Spinocerebellar Ataxias/*genetics
Genetic Association Studies ; Haplotypes ; Humans ; India ; Mexico

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Skocz do pozycji: 4.

Tytuł:: Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10.
Autorzy:: Hashem V; Department of Neurology, Houston Methodist Research Institute, Houston, Texas, United States of America.
Tiwari A; Department of Neurology, Houston Methodist Research Institute, Houston, Texas, United States of America.
Bewick B; Department of Neurology, Houston Methodist Research Institute, Houston, Texas, United States of America.
Teive HAG; Movement Disorders Unit, Neurology Service, Department of Internal Medicine, Hospital de Clinicas, Federal University of Paraná, Curitiba, PR, Brazil.
Moscovich M; Department of Internal Medicine, Federal University of Paraná, Curitiba, Paraná, Brazil.
Schüele B; Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America.
Bushara K; Department of Neurology, University of Minnesota Medical Center, Minneapolis, Minnesota, United States of America.
Bower M; Institute of Human Genetics, University of Minnesota Medical Center, Minneapolis, Minnesota, United States of America.
Rasmussen A; Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, CDMX, Mexico.
Tsai YC; Pacific Biosciences of California, Inc, Menlo Park, California, United States of America.
Clark T; Pacific Biosciences of California, Inc, Menlo Park, California, United States of America.
McFarland K; Department of Neurology and The McKnight Brain Institute, University of Florida, Gainesville, Florida, United States of America.
Ashizawa T; Department of Neurology, Houston Methodist Research Institute, Houston, Texas, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2020 Mar 11; Vol. 15 (3), pp. e0228789. Date of Electronic Publication: 2020 Mar 11 (Print Publication: 2020).
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Ataxin-10/*genetics
Electrophoresis, Capillary/*methods
Microsatellite Repeats/*genetics
Spinocerebellar Ataxias/*genetics
Adult ; Aged ; Aged, 80 and over ; DNA Repeat Expansion/genetics ; Female ; Humans ; Male ; Middle Aged ; Phenotype
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 5.

Tytuł:: Spinocerebellar Ataxias in India: Three‑year Molecular Data from a Central Reference Laboratory.
Autorzy:: Bhanushali AA; Research and Development, Mumbai, Maharashtra, India.
Venkatesan R; Research and Development, Mumbai, Maharashtra, India.
Das BR; Research and Development, Mumbai, Maharashtra, India.; Pokaż więcej
Źródło:: Neurology India [Neurol India] 2020 Jan-Feb; Vol. 68 (1), pp. 86-91.
Typ publikacji:: Journal Article
MeSH Terms:: Cerebellar Ataxia/*genetics
Nerve Tissue Proteins/*genetics
Spinocerebellar Ataxias/*genetics
Adult ; DNA Repeat Expansion/genetics ; Female ; Humans ; India ; Male ; Retrospective Studies ; Trinucleotide Repeat Expansion
SCR Disease Name:: Spinocerebellar Ataxia 10; Spinocerebellar Ataxia 12

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Skocz do pozycji: 6.

Tytuł:: Body composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group.
Autorzy:: Leite CMBA; Clinical Nutrition Unit, Hospital de Clínicas, Federal University of Paraná (UFPR), Curitiba, Brazil.
Schieferdecker MEM; Department of Nutrition, Federal University of Paraná (UFPR), Curitiba, Brazil.
Frehner C; Multi-professional residence Hospital de Clínicas, Federal University of Paraná (UFPR), Curitiba, Brazil.
Munhoz RP; Toronto Western Hospital, Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease, University Health Network, Toronto, Canada.
Ashizawa T; Neuroscience Research Program, Houston Methodist Research Institute, Houston, TX, USA.
Teive HAG; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná (UFPR), Curitiba, Brazil.; Pokaż więcej
Źródło:: Nutritional neuroscience [Nutr Neurosci] 2020 Jan; Vol. 23 (1), pp. 49-54. Date of Electronic Publication: 2018 May 07.
Typ publikacji:: Comparative Study; Journal Article
MeSH Terms:: Body Composition*
Machado-Joseph Disease/*physiopathology
Spinocerebellar Ataxias/*physiopathology
Adult ; Anthropometry ; DNA Repeat Expansion ; Female ; Humans ; Male ; Middle Aged
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 7.

Tytuł:: Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene.
Autorzy:: Nieto A; School of Psychology, Universidad de La Laguna , San Cristóbal de La Laguna , Spain.
Pérez-Flores J; School of Psychology, Universidad de La Laguna , San Cristóbal de La Laguna , Spain.
Corral-Juan M; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona , Barcelona , Spain.
Matilla-Dueñas A; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona , Barcelona , Spain.
Martínez-Burgallo F; Human Genetic Unit, Clinical Analyses Service, Hospital Ntra Sra de la Candelaria , Santa Cruz de Tenerife , Spain.
Montón F; Service of Neurology, Hospital Ntra. Sra. de la Candelaria , Santa Cruz de Tenerife , Spain.; Pokaż więcej
Źródło:: Neurocase [Neurocase] 2019 Oct; Vol. 25 (5), pp. 195-201. Date of Electronic Publication: 2019 Aug 19.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cognition*
Anoctamins/*genetics
Spinocerebellar Ataxias/*genetics
Spinocerebellar Ataxias/*psychology
Adult ; DNA Repeat Expansion/genetics ; Female ; Homozygote ; Humans ; Male ; Middle Aged ; Mutation ; Neuropsychological Tests ; Reaction Time ; Spinocerebellar Ataxias/diagnosis
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 8.

Tytuł:: Estimation of skeletal muscle mass in patients with spinocerebellar ataxia type 3 and 10.
Autorzy:: Cruz MMS; a Multi-Professional Residency Programme in Health Care of Adults and the Elderly , Federal University of Paraná Clinics Hospital (HC/UFPR) , Curitiba , PR , Brazil.
Leite CMBA; b Division of Clinical Nutrition , Federal University of Paraná Clinics Hospital (HC/UFPR) , Curitiba , PR , Brazil.
Schieferdecker MEM; c Department of Nutrition , Federal University of Paraná , Curitiba , PR , Brazil.
Teive HAG; d Department of Internal Medicine , Federal University of Paraná Clinics Hospital (HC/UFPR) , Curitiba , PR , Brazil.
Vieira BD; e Residency Programme in Oral and Maxillofacial Surgery and Traumatology , Federal University of Paraná , Curitiba , PR , Brazil.
Moro A; f Department of Medicine , Faculdades Pequeno Príncipe , Curitiba , PR , Brazil.; Pokaż więcej
Źródło:: The International journal of neuroscience [Int J Neurosci] 2019 Jul; Vol. 129 (7), pp. 698-702. Date of Electronic Publication: 2019 Feb 13.
Typ publikacji:: Journal Article
MeSH Terms:: Machado-Joseph Disease/*physiopathology
Muscle, Skeletal/*physiopathology
Spinocerebellar Ataxias/*physiopathology
Adult ; Anthropometry ; Body Weight ; Cross-Sectional Studies ; DNA Repeat Expansion ; Female ; Humans ; Male ; Middle Aged ; Nutritional Status ; Weight Loss
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 9.

Tytuł:: Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.
Autorzy:: Aydin G; Faculty of Health, University Witten-Herdecke, Alfred-Herrhausen-Strasse 50, 58448, Witten, Germany.
Dekomien G; Department of Human Genetics, Ruhr-University, Gebäude MA5/39, Universitätsstraße 150, 44801, Bochum, Germany.
Hoffjan S; Department of Human Genetics, Ruhr-University, Gebäude MA5/39, Universitätsstraße 150, 44801, Bochum, Germany.
Gerding WM; Department of Human Genetics, Ruhr-University, Gebäude MA5/39, Universitätsstraße 150, 44801, Bochum, Germany.
Epplen JT; Department of Human Genetics, Ruhr-University, Gebäude MA5/39, Universitätsstraße 150, 44801, Bochum, Germany.; Faculty of Health, University Witten-Herdecke, Alfred-Herrhausen-Strasse 50, 58448, Witten, Germany.
Arning L; Department of Human Genetics, Ruhr-University, Gebäude MA5/39, Universitätsstraße 150, 44801, Bochum, Germany. .; Pokaż więcej
Źródło:: BMC neurology [BMC Neurol] 2018 Jan 09; Vol. 18 (1), pp. 3. Date of Electronic Publication: 2018 Jan 09.
Typ publikacji:: Journal Article
MeSH Terms:: Spinocerebellar Ataxias*/epidemiology
Spinocerebellar Ataxias*/genetics
Ataxia/*genetics
C9orf72 Protein/*genetics
DNA Repeat Expansion/*genetics
Fragile X Syndrome/*genetics
Nerve Tissue Proteins/*genetics
Tremor/*genetics
Adult ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged ; Young Adult
SCR Disease Name:: Fragile X Tremor Ataxia Syndrome

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Skocz do pozycji: 10.

Tytuł:: First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.
Autorzy:: Naito H; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Takahashi T; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Kamada M; Department of Neurological Intractable Disease Research, Kagawa University School of Medicine, Kagawa, Japan.
Morino H; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
Yoshino H; Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Tokyo, Japan.
Hattori N; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Maruyama H; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Kawakami H; Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
Matsumoto M; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.; Japan Community Health care Organization, Hoshigaoka Medical Center, Osaka, Japan.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2017 May 19; Vol. 12 (5), pp. e0177955. Date of Electronic Publication: 2017 May 19 (Print Publication: 2017).
Typ publikacji:: Journal Article
MeSH Terms:: Ataxin-10/*genetics
Microsatellite Repeats/*genetics
Polymorphism, Single Nucleotide/*genetics
Spinocerebellar Ataxias/*genetics
Aged ; China ; DNA Repeat Expansion/genetics ; Female ; Haplotypes ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 11.

Tytuł:: Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry.
Autorzy:: Bushara K; Department of Neurology, University of Minnesota Medical Center, Minneapolis, Minnesota, United States of America.
Bower M
Liu J
McFarland KN
Landrian I
Hutter D
Teive HA
Rasmussen A
Mulligan CJ
Ashizawa T; Pokaż więcej
Źródło:: PloS one [PLoS One] 2013 Nov 20; Vol. 8 (11), pp. e81342. Date of Electronic Publication: 2013 Nov 20 (Print Publication: 2013).
Typ publikacji:: Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: DNA Repeat Expansion*/genetics
Indians, North American/*genetics
Nerve Tissue Proteins/*genetics
Spinocerebellar Ataxias/*genetics
Aged, 80 and over ; Ataxin-10 ; Evolution, Molecular ; Genetics, Population ; Haplotypes ; Humans ; Male ; Mutation ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 12.

Tytuł:: Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.
Autorzy:: Choubtum L; Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. .; Research Center, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. .
Witoonpanich P; Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. .
Hanchaiphiboolkul S; Department of Neurology, Prasat Neurological Institute, Bangkok, Thailand. .
Bhidayasiri R; Chulalongkorn Center of Excellence on Parkinson Disease and Related Disorders, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, 10330, Thailand. .
Jitkritsadakul O; Chulalongkorn Center of Excellence on Parkinson Disease and Related Disorders, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, 10330, Thailand. .
Pongpakdee S; Division of Medicine, Bhumibol Adulyadej Hospital, Bangkok, Thailand. .
Wetchaphanphesat S; Division of Neurology, Department of Medicine, Buriram Hospital, Buriram, Thailand. .
Boonkongchuen P; Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. .
Pulkes T; Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. .; Pokaż więcej
Źródło:: BMC neurology [BMC Neurol] 2015 Sep 15; Vol. 15, pp. 166. Date of Electronic Publication: 2015 Sep 15.
Typ publikacji:: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:: Spinocerebellar Ataxias/*genetics
Adolescent ; Adult ; Aged ; Asian People/genetics ; Case-Control Studies ; DNA Repeat Expansion/genetics ; Female ; Humans ; Male ; Middle Aged ; Spinocerebellar Degenerations/genetics ; TATA-Box Binding Protein/genetics ; Thailand ; Trinucleotide Repeat Expansion ; Young Adult
SCR Disease Name:: Spinocerebellar Ataxia 10; Spinocerebellar Ataxia 12; Spinocerebellar Ataxia 17; Spinocerebellar ataxia 19; Spinocerebellar ataxia 8

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Skocz do pozycji: 13.

Tytuł:: SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.
Autorzy:: McFarland KN; Department of Neurology and The McKnight Brain Institute, University of Florida, Gainesville, Florida, 32610, United States of America.
Liu J; Department of Neurology and The McKnight Brain Institute, University of Florida, Gainesville, Florida, 32610, United States of America.
Landrian I; Department of Neurology and The McKnight Brain Institute, University of Florida, Gainesville, Florida, 32610, United States of America.
Godiska R; Lucigen Corporation, Middleton, Wisconsin, 53562, United States of America.
Shanker S; Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, Florida, 32610, United States of America.
Yu F; Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, Florida, 32610, United States of America.
Farmerie WG; Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, Florida, 32610, United States of America.
Ashizawa T; Department of Neurology and The McKnight Brain Institute, University of Florida, Gainesville, Florida, 32610, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2015 Aug 21; Vol. 10 (8), pp. e0135906. Date of Electronic Publication: 2015 Aug 21 (Print Publication: 2015).
Typ publikacji:: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Genome, Human*
Microsatellite Repeats*
Ataxin-10/*genetics
Epilepsy/*genetics
Spinocerebellar Ataxias/*genetics
Adult ; Aged, 80 and over ; Alleles ; Base Sequence ; Chromosome Mapping ; DNA Repeat Expansion/genetics ; Epilepsy/complications ; Epilepsy/pathology ; Female ; Gene Expression ; High-Throughput Nucleotide Sequencing ; Humans ; Introns ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Phenotype ; Spinocerebellar Ataxias/complications ; Spinocerebellar Ataxias/pathology
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 14.

Tytuł:: Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.
Autorzy:: Baizabal-Carvallo JF; Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, USA.
Xia G; Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
Botros P; College of Medicine, University of Florida, Gainesville, FL, USA.
Laguna J; Hospital Universitario Japones, Santa Cruz, Bolivia.
Ashizawa T; Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
Jankovic J; Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, USA.; Pokaż więcej
Źródło:: Acta neurologica Scandinavica [Acta Neurol Scand] 2015 Aug; Vol. 132 (2), pp. 139-42. Date of Electronic Publication: 2015 Jan 28.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Ataxin-10/*genetics
Ataxin-2/*genetics
Spinocerebellar Ataxias/*genetics
Bolivia ; DNA Repeat Expansion/genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype
SCR Disease Name:: Spinocerebellar Ataxia 10

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Skocz do pozycji: 15.

Tytuł:: Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation.
Autorzy:: Yokoyama T; Department of Neurology, National Sagamihara Hospital, Kanagawa, Japan; Laboratory of Structural Neuropathology, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Ishiyama M
Hasegawa K
Uchihara T
Yagishita S; Pokaż więcej
Źródło:: Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2014 Feb; Vol. 34 (1), pp. 27-31. Date of Electronic Publication: 2013 May 27.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Inclusion Bodies/*ultrastructure
Neurons/*ultrastructure
Spinocerebellar Ataxias/*pathology
Adult ; Cytoplasm/ultrastructure ; DNA Repeat Expansion ; Humans ; Inclusion Bodies/genetics ; Male ; Spinocerebellar Ataxias/genetics

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Skocz do pozycji: 16.

Tytuł:: Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis.
Autorzy:: Niimi Y; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
Takahashi M
Sugawara E
Umeda S
Obayashi M
Sato N
Ishiguro T
Higashi M
Eishi Y
Mizusawa H
Ishikawa K; Pokaż więcej
Źródło:: Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2013 Dec; Vol. 33 (6), pp. 600-11. Date of Electronic Publication: 2013 Apr 22.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cell Nucleus/*genetics
DNA Repeat Expansion/*genetics
Purkinje Cells/*pathology
RNA/*genetics
Spinocerebellar Ataxias/*genetics
Age of Onset ; Aged ; Aged, 80 and over ; Flow Cytometry ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Nucleic Acid Conformation ; Real-Time Polymerase Chain Reaction ; Transfection
SCR Disease Name:: Spinocerebellar Ataxia 31

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Skocz do pozycji: 17.

Tytuł:: Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.
Autorzy:: McFarland KN; 1] Department of Neurology, University of Florida, Gainesville, FL, USA [2] Evelyn F & William L McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
Liu J
Landrian I
Gao R
Sarkar PS
Raskin S
Moscovich M
Gatto EM
Teive HA
Ochoa A
Rasmussen A
Ashizawa T; Pokaż więcej
Źródło:: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Nov; Vol. 21 (11), pp. 1272-6. Date of Electronic Publication: 2013 Feb 27.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: DNA Repeat Expansion/*genetics
Genomic Instability/*genetics
Spinocerebellar Ataxias/*genetics
Age of Onset ; Anticipation, Genetic ; Humans
SCR Disease Name:: Spinocerebellar Ataxia 10