Literature DB >> 15895558

Spinocerebellar ataxia with mental retardation (SCA13).

Giovanni Stevanin1, Alexandra Durr, Nawal Benammar, Alexis Brice.   

Abstract

Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onset and mental deficiency. The responsible gene has been assigned to a 5.2 Mbases interval on chromosome 19q in a single French family.

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Year:  2005        PMID： 15895558     DOI： 10.1080/14734220510007923

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


  20 in total

1.  Allegro, a new computer program for multipoint linkage analysis.

Authors:  D F Gudbjartsson; K Jonasson; M L Frigge; A Kong
Journal:  Nat Genet       Date:  2000-05       Impact factor: 38.330

2.  Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

Authors:  S E Holmes; E E O'Hearn; M G McInnis; D A Gorelick-Feldman; J J Kleiderlein; C Callahan; N G Kwak; R G Ingersoll-Ashworth; M Sherr; A J Sumner; A H Sharp; U Ananth; W K Seltzer; M A Boss; A M Vieria-Saecker; J T Epplen; O Riess; C A Ross; R L Margolis
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

3.  Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

Authors:  S M Pulst; A Nechiporuk; T Nechiporuk; S Gispert; X N Chen; I Lopes-Cendes; S Pearlman; S Starkman; G Orozco-Diaz; A Lunkes; P DeJong; G A Rouleau; G Auburger; J R Korenberg; C Figueroa; S Sahba
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

4.  Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

Authors:  K Sanpei; H Takano; S Igarashi; T Sato; M Oyake; H Sasaki; A Wakisaka; K Tashiro; Y Ishida; T Ikeuchi; R Koide; M Saito; A Sato; T Tanaka; S Hanyu; Y Takiyama; M Nishizawa; N Shimizu; Y Nomura; M Segawa; K Iwabuchi; I Eguchi; H Tanaka; H Takahashi; S Tsuji
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

5.  Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

Authors:  Zoran Brkanac; Magali Fernandez; Mark Matsushita; Hilary Lipe; John Wolff; Thomas D Bird; Wendy H Raskind
Journal:  Am J Med Genet       Date:  2002-05-08

6.  Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

Authors:  O Zhuchenko; J Bailey; P Bonnen; T Ashizawa; D W Stockton; C Amos; W B Dobyns; S H Subramony; H Y Zoghbi; C C Lee
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

7.  Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

Authors:  G David; N Abbas; G Stevanin; A Dürr; G Yvert; G Cancel; C Weber; G Imbert; F Saudou; E Antoniou; H Drabkin; R Gemmill; P Giunti; A Benomar; N Wood; M Ruberg; Y Agid; J L Mandel; A Brice
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

8.  Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

Authors:  T Matsuura; T Yamagata; D L Burgess; A Rasmussen; R P Grewal; K Watase; M Khajavi; A E McCall; C F Davis; L Zu; M Achari; S M Pulst; E Alonso; J L Noebels; D L Nelson; H Y Zoghbi; T Ashizawa
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

9.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Authors:  Y Kawaguchi; T Okamoto; M Taniwaki; M Aizawa; M Inoue; S Katayama; H Kawakami; S Nakamura; M Nishimura; I Akiguchi
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

10.  Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Authors:  Dong-Hui Chen; Zoran Brkanac; Christophe L M J Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; P J Cimino; Thomas D Bird; Wendy H Raskind
Journal:  Am J Hum Genet       Date:  2003-03-17       Impact factor: 11.025
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  6 in total

1.  Consensus paper: the cerebellum's role in movement and cognition.

Authors:  Leonard F Koziol; Deborah Budding; Nancy Andreasen; Stefano D'Arrigo; Sara Bulgheroni; Hiroshi Imamizu; Masao Ito; Mario Manto; Cherie Marvel; Krystal Parker; Giovanni Pezzulo; Narender Ramnani; Daria Riva; Jeremy Schmahmann; Larry Vandervert; Tadashi Yamazaki
Journal:  Cerebellum       Date:  2014-02       Impact factor: 3.847

2.  Magnetic resonance imaging in spinocerebellar ataxias.

Authors:  Susanne Döhlinger; Till-Karsten Hauser; Johannes Borkert; Andreas R Luft; Jörg B Schulz
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

3.  A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Authors:  Katherine E Hekman; Guo-Yun Yu; Christopher D Brown; Haipeng Zhu; Xiaofei Du; Kristina Gervin; Dag Erik Undlien; April Peterson; Giovanni Stevanin; H Brent Clark; Stefan M Pulst; Thomas D Bird; Kevin P White; Christopher M Gomez
Journal:  Hum Mol Genet       Date:  2012-09-21       Impact factor: 6.150

Review 4.  Sleep Disorders in Hereditary Ataxias.

Authors:  Lucio Huebra; Fernando Morgadinho Coelho; Flávio Moura Rezende Filho; Orlando G Barsottini; José Luiz Pedroso
Journal:  Curr Neurol Neurosci Rep       Date:  2019-07-25       Impact factor: 5.081

Review 5.  The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.

Authors:  Katherine E Hekman; Christopher M Gomez
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-08-18       Impact factor: 10.154

6.  Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo.

Authors:  Jui-Yi Hsieh; Brittany N Ulrich; Fadi A Issa; Meng-Chin A Lin; Brandon Brown; Diane M Papazian
Journal:  Elife       Date:  2020-07-09       Impact factor: 8.140
  6 in total

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