Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Cited by (1,000)

Items 301–400 of 1,000

  1. The central role of DNA damage and repair in CAG repeat diseases
    Thomas H. Massey, Lesley Jones · 2018 · Disease Models & Mechanisms
  2. Prions, prionoids and pathogenic proteins in Alzheimer disease
    Karen H. Ashe, Adriano Aguzzi · 2013 · Prion
  3. Genome-Wide Survey for Biologically Functional Pseudogenes
    Örjan Per Svensson, Lars Arvestad, Jens Lagergren · 2005 · PLoS Computational Biology
  4. Altered Trafficking of Membrane Proteins in Purkinje Cells of SCA1 Transgenic Mice
    Pamela J. Skinner, Cynthia Vierra‐Green, H. Brent Clark, Huda Yahya Zoghbi, Harry T. Orr · 2001 · American Journal Of Pathology
  5. Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado-Joseph disease brains.
    H. Fujigasaki, T. Uchihara, S. Koyano, K. Iwabuchi, S. Yagishita, T. Makifuchi, Ayako Nakamura, K. Ishida, S. Toru, S. Hirai et al. · 2000 · Experimental Neurology
  6. Androgen receptor-mediated hypersensitivity to androgens in women with nonhyperandrogenic hirsutism: skewing of X-chromosome inactivation.
    A. Vottero, Constantine A. Stratakis, L. Ghizzoni, C. Longui, M. Karl, G. Chrousos · 1999 · Journal of Clinical Endocrinology and Metabolism
  7. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.
    B. Soong, Yi-chun Lu, K. Choo, Hsiang-Ying Lee · 2001
  8. Gain of glutamines, gain of function?
    D. Housman · 1995 · Nature Genetics
  9. CAG repeat size and clinical presentation in Huntington's disease
    T. Ashizawa, Lee-Jun C. Wong, Carolyn Sue Richards, C. Caskey, J. Jankovic · 1994 · Neurology
  10. Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.
    J. Pang, P. Giunti, S. Chamberlain, S. An, R. Vitaliani, T. Scaravilli, L. Martinian, N. Wood, F. Scaravilli, O. Ansorge · 2002 · Brain : a journal of neurology
  11. Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations
    O. Dubourg, Alexandra Dürr, Géraldine Cancel‐Tassin, Giovanni Stévanin, Christiane Penet, Yves Agid, Alexis Brice, Hervé Chneiweiss · 1995 · Annals of Neurology
  12. Transgenic zebrafish models of neurodegenerative diseases
    Jonathan J. Sager, Qing Bai, Edward A. Burton · 2010 · Brain Structure and Function
  13. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
    I. Alonso, J. Barros, A. Tuna, J. Coelho, J. Sequeiros, I. Silveira, P. Coutinho · 2003 · Archives of Neurology
  14. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
    J. Del-Favero, L. Krols, Andrej Michalík, J. Theuns, A. Löfgren, D. Goossens, A. Wehnert, D. Van den Bossche, K. van Zand, H. Backhovens et al. · 1998 · Human Molecular Genetics
  15. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.
    K. Damji, R. Allingham, S. Pollock, Kent W. Small, K. Lewis, J. Stajich, L. Yamaoka, J. Vance, M. Pericak-Vance · 1996 · Archives of Neurology
  16. Apolipoprotein E, a Gene with Complex Biological Interactions in the Aging Brain
    Allen D. Roses · 1997 · Neurobiology of Disease
  17. A clinical and genetic study of early‐onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next‐generation sequencing
    Chin‐Hsien Lin, Pei‐Lung Chen, Chun‐Hwei Tai, Hang‐I Lin, Chih‐Shan Chen, Meng‐Ling Chen, Ruey‐Meei Wu · 2019 · Movement Disorders
  18. Recent Advances in the Genetics of Cerebellar Ataxias
    Anna Sailer, Henry Houlden · 2012 · Current Neurology and Neuroscience Reports
  19. CAG-encoded polyglutamine length polymorphism in the human genome
    S. Butland, R. S. Devon, Yong Huang, Carri-Lyn Mead, A. Meynert, S. J. Neal, Soo-Sen Lee, Anna Wilkinson, George S. Yang, M. M. Yuen et al. · 2007 · BMC Genomics
  20. REVIEW ARTICLE. MICROSATELLITES AND PCR GENOMIC ANALYSIS
    John Koreth, John J. O’Leary, James O’D. McGee · 1996 · The Journal of Pathology
  21. The CAG–polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology
    Colleen A. Stoyas, Albert R. La Spada · 2018 · Handbook of clinical neurology
  22. Huntington’s Disease Pathogenesis: Two Sequential Components
    Eun Pyo Hong, Marcy E. MacDonald, Vanessa C. Wheeler, Lesley Jones, Peter Holmans, Michael Orth, Darren G. Monckton, Jeffrey D. Long, Seung Kwak, James F. Gusella et al. · 2021 · Journal of Huntington s Disease
  23. RNA-binding proteins balance brain function in health and disease
    Rico Schieweck, Jovica Ninkovic, Michael A. Kiebler · 2020 · Physiological Reviews
  24. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin‐1
    Akifumi Mizutani, Lei Wang, Harini Rajan, Parminder J. S. Vig, William A. Alaynick, Joshua P. Thaler, Chih‐Cheng Tsai · 2005 · The EMBO Journal
  25. The hereditary adult-onset ataxias in South Africa.
    A. Bryer, A. Krause, P. Bill, V. Davids, Daphne Bryant, James Butler, J. Heckmann, R. Ramesar, J. Greenberg · 2003 · Journal of Neurological Sciences
  26. Clinical Aspects of CAG Repeat Diseases
    M. Nance · 1997 · Brain Pathology
  27. The genomic structure and expression of MJD, the Machado-Joseph disease gene
    Y. Ichikawa, J. Goto, M. Hattori, A. Toyoda, K. Ishii, Seon-Yong Jeong, H. Hashida, N. Masuda, K. Ogata, F. Kasai et al. · 2001 · Journal of Human Genetics
  28. Spinocerebellar ataxia type 6
    D. Geschwind, S. Perlman, K. Figueroa, J. Karrim, R. Baloh, S. Pulst · 1997 · Neurology
  29. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
    M. Abramowicz, M. Andrien, E. Dupont, H. Dorchy, J. Parma, L. Duprez, F. Ledley, W. Courtens, E. Vámos · 1994 · Journal of Clinical Investigation
  30. Poly-l-Glutamine Forms Cation Channels: Relevance to the Pathogenesis of the Polyglutamine Diseases
    Hiroshi Monoi, Shiroh Futaki, Shinichi Kugimiya, Hiroyuki Minakata, Kazuo Yoshihara · 2000 · Biophysical Journal
  31. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India
    P. Basu, B. Chattopadhyay, P. K. Gangopadhaya, S. Mukherjee, K. K. Sinha, S. Das, S. Roychoudhury, P. Majumder, N. Bhattacharyya · 2000 · Human Genetics
  32. Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.
    Ludger J. Schöls, George Amoiridis, Jörg T. Epplen, M Langkafel, H. Przuntek, Olaf Rieß · 1996 · Journal of Neurology Neurosurgery & Psychiatry
  33. Structural and functional differences in the dio1 gene in mice with inherited type 1 deiodinase deficiency.
    A. L. Maia, M. J. Berry, R. Sabbag, J. Harney, P. Larsen · 1995 · Molecular Endocrinology
  34. Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system.
    B. Brooks, H. Paulson, D. Merry, E. Salazar-Grueso, A. Brinkmann, E. Wilson, K. Fischbeck · 1997 · Neurobiology of Disease
  35. Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
    D. Verbeek, J. Schelhaas, E. Ippel, F. Beemer, P. Pearson, R. Sinke · 2002 · Human Genetics
  36. On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family
    Jean‐Jacques Martin, Luc Krols, C. Ceuterick, Christine Van Broeckhoven, Nicole Van Regemorter, F. Hayer-Delatte, J.-M. Brucher, Th. de Barsy, Henri Szliwowski, Philippe Evrard et al. · 1994 · Acta Neuropathologica
  37. Epigenetic Mechanisms of Neurodegeneration in Huntington's Disease
    Jung-Hee Lee, Yu Jin Hwang, Ki Yoon Kim, Neil W. Kowall, Hoon Ryu · 2013 · Neurotherapeutics
  38. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6
    Guo-Yun Yu, M. Howell, Matthew J. Roller, Tingming Xie, C. M. Gomez · 2005 · Annals of Neurology
  39. Hsp105α Suppresses the Aggregation of Truncated Androgen Receptor with Expanded CAG Repeats and Cell Toxicity*
    K. Ishihara, N. Yamagishi, Youhei Saito, H. Adachi, Y. Kobayashi, G. Sobue, K. Ohtsuka, T. Hatayama · 2003 · Journal of Biological Chemistry
  40. Genetics of neurodegenerative diseases: an overview
    Lasse Pihlstrøm, Sarah Wiethoff, Henry Houlden · 2017 · Handbook of clinical neurology
  41. The Role of Interruptions in polyQ in the Pathology of SCA1
    Rajesh P. Menon, Suran Nethisinghe, Serena Faggiano, Tommaso Vannocci, Human Rezaei, Sally E. Pemble, Mary G. Sweeney, Nicholas William Wood, Mary B. Davis, Annalisa Pastore et al. · 2013 · PLoS Genetics
  42. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia
    Utako Nagaoka, M. Takashima, K. Ishikawa, K. Yoshizawa, T. Yoshizawa, M. Ishikawa, T. Yamawaki, Shin'ichi Shoji, H. Mizusawa · 2000 · Neurology
  43. Post-translational modifications of expanded polyglutamine proteins: impact on neurotoxicity
    Pennuto, M., Palazzolo, I., Poletti, A. · 2009 · Human Molecular Genetics
  44. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
    D. Verbeek, B. V. D. van de Warrenburg, P. Wesseling, Peter L. Pearson, H. Kremer, R. Sinke · 2004 · Brain : a journal of neurology
  45. Skeletal muscle response to tenotomy
    Amir A. Jamali, Pouya Afshar, Reid A. Abrams, Richard L. Lieber · 2000 · Muscle & Nerve
  46. Clinical features and natural history of spinocerebellar ataxia type 1
    H. Sasaki, T. Fukazawa, T. Yanagihara, T. Hamada, K. Shima, A. Matsumoto, K. Hashimoto, N. Ito, A. Wakisaka, K. Tashiro · 1996 · Acta Neurologica Scandinavica
  47. Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy
    Megan S. Keiser, Ryan L. Boudreau, Beverly L. Davidson · 2014 · Molecular Therapy
  48. Polyglutamine neurodegeneration: expanded glutamines enhance native functions
    Harry T. Orr · 2012 · Current Opinion in Genetics & Development
  49. Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.
    Rong Mao, A. Aylsworth, N. Potter, W. G. Wilson, G. Breningstall, M. Wick, D. Babovic-Vuksanovic, M. Nance, M. Patterson, Christopher M. Gomez et al. · 2002 · American journal of medical genetics
  50. Huntingtin protein colocalizes with lesions of neurodegenerative diseases: An investigation in Huntington's, Alzheimer's, and Pick's diseases.
    S. Singhrao, P. Thomas, Jonathan D. Wood, J. Macmillan, James W. Neal, Peter S. Harper, A. L. Jones · 1998 · Experimental Neurology
  51. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6
    Hidetaka Watanabe, F. Tanaka, M. Matsumoto, M. Doyu, T. Ando, T. Mitsuma, G. Sobue · 1998 · Clinical Genetics
  52. Cell death in polyglutamine diseases
    B. Evert, U. Wüllner, T. Klockgether · 2000 · Cell and Tissue Research
  53. Noninvasive Detection of Presymptomatic and Progressive Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1
    Gülin Öz, Christopher D. Nelson, Dee M. Koski, Pierre‐Gilles Henry, Małgorzata Marjańska, Dinesh Kumar Deelchand, Ryan Shanley, Lynn E. Eberly, Harry T. Orr, H. Brent Clark · 2010 · Journal of Neuroscience
  54. Anticipation in familial chronic lymphocytic leukaemia
    P. Wiernik, M. Ashwin, Xiao-Ping Hu, E. Paietta, K. Brown · 2001 · British Journal of Haematology
  55. Machado‐joseph disease: Clinical, molecular, and metabolic characterization in chinese kindreds
    Bing‐wen Soon, Chung‐Hui Cheng, Ren-Shyan Liu, D. Shan · 1997 · Annals of Neurology
  56. Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
    Terence Gall-Duncan, Nozomu J. Sato, Ryan K. C. Yuen, Christopher E. Pearson · 2021 · Genome Research
  57. Abnormalities in the Climbing Fiber-Purkinje Cell Circuitry Contribute to Neuronal Dysfunction inATXN1[82Q] Mice
    Justin A. Barnes, Blake A. Ebner, Lisa A. Duvick, Wangcai Gao, Gang Chen, Harry T. Orr, Timothy J. Ebner · 2011 · Journal of Neuroscience
  58. Distribution of ataxin-7 in normal human brain and retina.
    G. Cancel, C. Duyckaerts, M. Holmberg, C. Zander, Gaël Yvert, A. Lèbre, M. Ruberg, B. Faucheux, Y. Agid, E. Hirsch et al. · 2000 · Brain : a journal of neurology
  59. High Germinal Instability of the (CTG)n at the SCA8 Locus of Both Expanded and Normal Alleles
    Isabel Silveira, Isabel da Conceição Moreira Pereira Alonso, Laura Guimarães, Pedro Mendonça, Célia Santos, Patrı́cia Maciel, J.M. Fidalgo de Matos, M. Costa, Clara Barbot, Assunção Tuna et al. · 2000 · The American Journal of Human Genetics
  60. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines.
    H. Orr, H. Zoghbi · 2001 · Human Molecular Genetics
  61. Amplification of microsatellites adapted from human systems in faecal DNA of wild Hanuman langurs (Presbytis entellus)
    Kristin Launhardt, C. Epplen, J. Epplen, P. Winkler · 1998 · Electrophoresis
  62. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
    J. Leggo, A. Dalton, P. Morrison, A. Dodge, M. Connarty, Maritha J. Kotze, D. Rubinsztein · 1997 · Journal of Medical Genetics
  63. Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues
    Lubov Timchenko, C. Caskey · 1996 · The FASEB Journal
  64. Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene
    Irina V. Kovtun · 2000 · Human Molecular Genetics
  65. Advances in transcriptome analysis of human brain aging
    Seokjin Ham, Seung‐Jae Lee · 2020 · Experimental & Molecular Medicine
  66. Caspase-3 cleaves the expanded androgen receptor protein of spinal and bulbar muscular atrophy in a polyglutamine repeat length-dependent manner.
    Y. Kobayashi, S. Miwa, D. Merry, A. Kume, Li Mei, M. Doyu, G. Sobue · 1998 · Biochemical and Biophysical Research Communications - BBRC
  67. Myotonic dystrophy: will the real gene pleasestep forward!
    Sarah E. Harris, Colin L. Moncrieff, Keith J. Johnson · 1996 · Human Molecular Genetics
  68. Microsatellite instability in early sporadic breast cancer.
    J. Shaw, T. Walsh, S. Chappell, N. Carey, K. Johnson, R. Walker · 1996 · British Journal of Cancer
  69. The stabilization of repetitive tracts of DNA by variant repeats requires a functional DNA mismatch repair system
    Shaun M. Heale, Thomas D. Petes · 1995 · Cell
  70. Anticipation in spinocerebellar ataxia type 2
    Stefan-M. Pulst, Alex V. Nechiporuk, Sid Starkman · 1993 · Nature Genetics
  71. The Cerebellum, Cerebellar Disorders, and Cerebellar Research—Two Centuries of Discoveries
    Mario Ubaldo Manto · 2008 · The Cerebellum
  72. Epidemiology and population genetics of degenerative ataxias
    Jorge Sequeiros, Sandra Martins, Isabel Silveira · 2011 · Handbook of clinical neurology
  73. Triplet repeat expansion mutations: the example of fragile X syndrome.
    Stephen T. Warren, C. T. Ashley · 1995 · Annual Review of Neuroscience
  74. Nucleolar dysfunction in Huntington's disease
    Jung-Hee Lee, Yu Jin Hwang, Hyun Ryu, Neil W. Kowall, Hoon Ryu · 2013 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  75. Familial Alzheimer's disease: Site of mutation influences clinical phenotype
    Carol Frances Lippa, Joan M. Swearer, Kevin Kane, David Nochlin, Thomas D. Bird, Bernardino Francesco Ghetti, Linda E. Nee, Peter St George‐Hyslop, Dan A. Pollen, David A. Drachman · 2000 · Annals of Neurology
  76. Progress in pathogenesis studies of spinocerebellar ataxia type 1.
    C. Cummings, H. Orr, H. Zoghbi · 1999 · Philosophical transactions of the Royal Society of London. Series B, Biological sciences
  77. Transgenic Mice in the Study of Polyglutamine Repeat Expansion Diseases
    Gillian P. Bates, Laura Mangiarini, Stephen W. Davies · 1998 · Brain Pathology
  78. Kennedy disease
    K. Fischbeck · 1997 · Journal of Inherited Metabolic Disease
  79. Neurodegenerative diseases and transglutaminase.
    L. Lorand · 1996 · Proceedings of the National Academy of Sciences of the United States of America
  80. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado‐joseph disease
    Íscia Lopes‐Cendes, Patrı́cia Maciel, Stephen J. Kish, Cláudia Gaspar, Isabel Silveira, Yves Robitaille, H. Brent Clark, Arnulf H. Koeppen, MARTHA A. NANCE, Lawrence J. Schut et al. · 1996 · Annals of Neurology
  81. E3 Ubiquitin Ligases Neurobiological Mechanisms: Development to Degeneration
    Arun Upadhyay, Vibhuti Joshi, Ayeman Amanullah, Ribhav Mishra, Naina Arora, Amit Prasad, Amit Mishra · 2017 · Frontiers in Molecular Neuroscience
  82. Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico‐pathological insights
    U. Rüb, K. Bürk, D. Timmann, W. D. den Dunnen, K. Seidel, K. Farrag, E. Brunt, H. Heinsen, R. Egensperger, A. Bornemann et al. · 2012 · Neuropathology and Applied Neurobiology
  83. Ataxin‐1 and Brother of ataxin‐1 are components of the Notch signalling pathway
    Xin Tong, Hongxing Gui, Feng Jie Jin, Bryan W. Heck, Peihui Lin, Jianjie Ma, Joseph D. Fondell, Chih‐Cheng Tsai · 2011 · EMBO Reports
  84. Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down
    Mário Gomes-Pereira, Darren G. Monckton · 2006 · Mutation research. Fundamental and molecular mechanisms of mutagenesis
  85. The Role of Ubiquitin-Protein Ligases in Neurodegenerative Disease
    H.C. Ardley, Philip Alan Robinson · 2004 · Neurodegenerative Diseases
  86. Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.
    Junko Takahashi, H. Fujigasaki, C. Zander, K. El Hachimi, G. Stevanin, A. Dürr, A. Lèbre, Gaël Yvert, Y. Trottier, H. de Thé et al. · 2002 · Brain : a journal of neurology
  87. Clinical features and genetic analysis of a new form of spinocerebellar ataxia
    D. Devos, S. Schraen-Maschke, I. Vuillaume, K. Dujardin, P. Nazé, C. Willoteaux, A. Destée, B. Sablonnière · 2001 · Neurology
  88. Proton magnetic resonance spectroscopy in an italian family with spinocerebellar ataxia type 1
    M. Mascalchi, M. Tosetti, R. Plasmati, Maria Cristina Bianchi, C. Tessa, F. Salvi, M. Frontali, F. Valzania, C. Bartolozzi, C. A. Tassinari · 1998 · Annals of Neurology
  89. Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.
    Kazuo Isozumi, Robert Delong, J. Kaplan, Han-Xiang Deng, Zafar Iqbal, Wu-Yen Hung, Kirk C. Wilhelmsen, A. Hentati, M. Pericak-Vance, Teepu Siddique · 1996 · Human Molecular Genetics
  90. Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability
    K. Sobczak, W. Krzyzosiak · 2004 · Human Mutation
  91. USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product.
    Sung-Hoi Hong, Sung-Jo Kim, S. Ka, I. Choi, Seongman Kang · 2002 · Molecular and cellular neurosciences
  92. Genetic anticipation in Parkinson's disease
    H. Payami, S. Bernard, K. Larsen, Jeffrey Kaye, J. Nutt · 1995 · Neurology
  93. Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I
    A. Benomar, E. Le Guern, A. Durr, H. Ouhabi, G. Stevanin, M. Yahyaoui, T. Chkili, Y. Agid, Alexis Brice · 1994 · Annals of Neurology
  94. A complex mutable polymorphism located within the fragile X gene
    N. Zhong, C. Dobkin, W. Brown · 1993 · Nature Genetics
  95. The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population
    V. Juvonen, M. Hietala, V. Kairisto, M.-L. Savontaus · 2005 · Acta Neurologica Scandinavica
  96. Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation
    Hiroaki Miyajima, Satoshi Kono, Yoshitomo Takahashi, Masahiro Sugimoto, Masaki Sakamoto, Naoki Sakai · 2001 · Neurology
  97. Multiplex sets for the amplification of polymorphic short tandem repeat loci--silver stain and fluorescence detection.
    A. M. Lins, C. Sprecher, C. Puers, J. Schumm · 1996 · BioTechniques
  98. Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia
    J. Jonasson, V. Juvonen, P. Sistonen, J. Ignatius, D. Johansson, E. Björck, J. Wahlström, A. Melberg, G. Holmgren, L. Forsgren et al. · 2000 · European Journal of Human Genetics
  99. Expression Analysis of Ataxin‐7 mRNA and Protein in Human Brain: Evidence for a Widespread Distribution and Focal Protein Accumulation
    Katrin S. Lindenberg, Gaël Yvert, Klaus Müller, G. Landwehrmeyer · 2000 · Brain Pathology
  100. Transgenic models of Huntington's disease
    Gillian P. Bates · 1997 · Human Molecular Genetics