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Literature DB >> 18418682

The highly heterogeneous spinocerebellar ataxias: from genes to targets for therapeutic intervention.

Antoni Matilla-Dueñas¹.

Abstract

Entities: Disease

Mesh：

Year: 2008 PMID： 18418682 DOI： 10.1007/s12311-008-0020-5

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

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35 in total

1. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

Authors: P F Worth; P Giunti; C Gardner-Thorpe; P H Dixon; M B Davis; N W Wood
Journal: Am J Hum Genet Date: 1999-08 Impact factor: 11.025

2. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

Authors: Isabelle Vuillaume; David Devos; Susanna Schraen-Maschke; Christian Dina; Arnaud Lemainque; Francis Vasseur; Guy Bocquillon; Patrick Devos; Carole Kocinski; Christiane Marzys; Alain Destée; Bernard Sablonnière
Journal: Ann Neurol Date: 2002-11 Impact factor: 10.422

3. 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

4. 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

5. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

Authors: Michael F Waters; Natali A Minassian; Giovanni Stevanin; Karla P Figueroa; John P A Bannister; Dagmar Nolte; Allan F Mock; Virgilio Gerald H Evidente; Dominic B Fee; Ulrich Müller; Alexandra Dürr; Alexis Brice; Diane M Papazian; Stefan M Pulst
Journal: Nat Genet Date: 2006-02-26 Impact factor: 38.330

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

The highly heterogeneous spinocerebellar ataxias: from genes to targets for therapeutic intervention.

1. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

2. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

3. 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.

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

5. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

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

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

8. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.

9. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

10. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.

Review 1. TRPC channels and their implication in neurological diseases.

2. Animal models of human cerebellar ataxias: a cornerstone for the therapies of the twenty-first century.

Review 3. Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.

4. Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21).

5. A new myohaptic instrument to assess wrist motion dynamically.

Review 6. Neurological tremor: sensors, signal processing and emerging applications.

7. A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.