Literature DB >> 18293026

Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic.

Yorck Hellenbroich, Veronica Bernard, Christine Zühlke.   

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Year:  2008        PMID： 18293026     DOI： 10.1007/s00415-008-0771-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  13 in total

1.  The sequence and analysis of duplication-rich human chromosome 16.

Authors:  Joel Martin; Cliff Han; Laurie A Gordon; Astrid Terry; Shyam Prabhakar; Xinwei She; Gary Xie; Uffe Hellsten; Yee Man Chan; Michael Altherr; Olivier Couronne; Andrea Aerts; Eva Bajorek; Stacey Black; Heather Blumer; Elbert Branscomb; Nancy C Brown; William J Bruno; Judith M Buckingham; David F Callen; Connie S Campbell; Mary L Campbell; Evelyn W Campbell; Chenier Caoile; Jean F Challacombe; Leslie A Chasteen; Olga Chertkov; Han C Chi; Mari Christensen; Lynn M Clark; Judith D Cohn; Mirian Denys; John C Detter; Mark Dickson; Mira Dimitrijevic-Bussod; Julio Escobar; Joseph J Fawcett; Dave Flowers; Dea Fotopulos; Tijana Glavina; Maria Gomez; Eidelyn Gonzales; David Goodstein; Lynne A Goodwin; Deborah L Grady; Igor Grigoriev; Matthew Groza; Nancy Hammon; Trevor Hawkins; Lauren Haydu; Carl E Hildebrand; Wayne Huang; Sanjay Israni; Jamie Jett; Phillip B Jewett; Kristen Kadner; Heather Kimball; Arthur Kobayashi; Marie-Claude Krawczyk; Tina Leyba; Jonathan L Longmire; Frederick Lopez; Yunian Lou; Steve Lowry; Thom Ludeman; Chitra F Manohar; Graham A Mark; Kimberly L McMurray; Linda J Meincke; Jenna Morgan; Robert K Moyzis; Mark O Mundt; A Christine Munk; Richard D Nandkeshwar; Sam Pitluck; Martin Pollard; Paul Predki; Beverly Parson-Quintana; Lucia Ramirez; Sam Rash; James Retterer; Darryl O Ricke; Donna L Robinson; Alex Rodriguez; Asaf Salamov; Elizabeth H Saunders; Duncan Scott; Timothy Shough; Raymond L Stallings; Malinda Stalvey; Robert D Sutherland; Roxanne Tapia; Judith G Tesmer; Nina Thayer; Linda S Thompson; Hope Tice; David C Torney; Mary Tran-Gyamfi; Ming Tsai; Levy E Ulanovsky; Anna Ustaszewska; Nu Vo; P Scott White; Albert L Williams; Patricia L Wills; Jung-Rung Wu; Kevin Wu; Joan Yang; Pieter Dejong; David Bruce; Norman A Doggett; Larry Deaven; Jeremy Schmutz; Jane Grimwood; Paul Richardson; Daniel S Rokhsar; Evan E Eichler; Paul Gilna; Susan M Lucas; Richard M Myers; Edward M Rubin; Len A Pennacchio
Journal:  Nature       Date:  2004-12-23       Impact factor: 49.962

2.  A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan.

Authors:  M Takashima; K Ishikawa; U Nagaoka; S Shoji; H Mizusawa
Journal:  J Hum Genet       Date:  2001       Impact factor: 3.172

3.  Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.

Authors:  Y Hellenbroich; K Gierga; E Reusche; E Schwinger; T Deller; R A I de Vos; C Zühlke; U Rüb
Journal:  J Neural Transm (Vienna)       Date:  2005-12-19       Impact factor: 3.575

4.  Spinocerebellar ataxia type 4. Investigation of 34 candidate genes.

Authors:  Y Hellenbroich; H Pawlack; U Rüb; E Schwinger; Ch Zühlke
Journal:  J Neurol       Date:  2005-07-07       Impact factor: 4.849

5.  An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.

Authors:  Kinya Ishikawa; Shuta Toru; Taiji Tsunemi; Mingshun Li; Kazuhiro Kobayashi; Takanori Yokota; Takeshi Amino; Kiyoshi Owada; Hiroto Fujigasaki; Masaki Sakamoto; Hiroyuki Tomimitsu; Minoru Takashima; Jiro Kumagai; Yoshihiro Noguchi; Yoshiyuki Kawashima; Norio Ohkoshi; Gen Ishida; Manabu Gomyoda; Mari Yoshida; Yoshio Hashizume; Yuko Saito; Shigeo Murayama; Hiroshi Yamanouchi; Toshio Mizutani; Ikuko Kondo; Tatsushi Toda; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2005-07-06       Impact factor: 11.025

6.  Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese.

Authors:  Y Onodera; M Aoki; H Mizuno; H Warita; Y Shiga; Y Itoyama
Journal:  Neurology       Date:  2006-10-10       Impact factor: 9.910

7.  Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.

Authors:  K Flanigan; K Gardner; K Alderson; B Galster; B Otterud; M F Leppert; C Kaplan; L J Ptácek
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

8.  Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.

Authors:  Y Hellenbroich; S Bubel; H Pawlack; S Opitz; P Vieregge; E Schwinger; C Zühlke
Journal:  J Neurol       Date:  2003-06       Impact factor: 4.849

9.  A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Authors:  Takako Ohata; Kunihiro Yoshida; Haruya Sakai; Haruka Hamanoue; Takeshi Mizuguchi; Yusaku Shimizu; Tomomi Okano; Fumio Takada; Kinya Ishikawa; Hidehiro Mizusawa; Ko-Ichiro Yoshiura; Yoshimitsu Fukushima; Shu-Ichi Ikeda; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2006-04-14       Impact factor: 3.172

10.  Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.

Authors:  Stefan Wieczorek; Larissa Arning; Ingrid Alheite; Jörg T Epplen
Journal:  J Hum Genet       Date:  2006-02-21       Impact factor: 3.172
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  2 in total

1.  Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.

Authors:  Ulf Edener; Veronica Bernard; Yorck Hellenbroich; Gabriele Gillessen-Kaesbach; Christine Zühlke
Journal:  J Neurol       Date:  2011-01-26       Impact factor: 4.849

2.  Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Authors:  Nozomu Sato; Takeshi Amino; Kazuhiro Kobayashi; Shuichi Asakawa; Taro Ishiguro; Taiji Tsunemi; Makoto Takahashi; Tohru Matsuura; Kevin M Flanigan; Sawa Iwasaki; Fumitoshi Ishino; Yuko Saito; Shigeo Murayama; Mari Yoshida; Yoshio Hashizume; Yuji Takahashi; Shoji Tsuji; Nobuyoshi Shimizu; Tatsushi Toda; Kinya Ishikawa; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2009-10-29       Impact factor: 11.025
  2 in total

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