Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

被引：0

作者：

François Gros-Louis

Nicolas Dupré

Patrick Dion

Michael A Fox

Sandra Laurent

Steve Verreault

Joshua R Sanes

Jean-Pierre Bouchard

Guy A Rouleau

机构：

[1] Centre for the Study of Brain Diseases,Department of Neurological Sciences

[2] Centre Hospitalier de l'Université de Montréal and Centre Hospitalier Universitaire – Ste-Justine,Department of Molecular and Cellular Biology

[3] Université de Montréal,undefined

[4] Faculty of Medicine,undefined

[5] Laval University,undefined

[6] Centre Hospitalier Affilié Universitaire de Québec – Enfant-Jesus Hospital,undefined

[7] Harvard University,undefined

来源：

Nature Genetics | 2007年 / 39卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

I am changing the text on this to see if it works when I run full and toc at the same time. This is an issue edsumm for ng1927. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence. It shows that sea surface temperatures near the North Pole increased from roughly 18 degrees Celsius to over 23 degrees Celsius — such warm values imply the absence of ice and thus exclude the influence of ice-albedo feedbacks on this Arctic warming.

引用

页码：80 / 85

页数：5

共 50 条

[1] Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
Gros-Louis, Francois
Dupre, Nicolas
Dion, Patrick
Fox, Michael A.
Laurent, Sandra
Verreault, Steve
Sanes, Joshua R.
Bouchard, Jean-Pierre
Rouleau, Guy A.
[J]. NATURE GENETICS, 2007, 39 (01) : 80 - 85
[2] SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia
Noreau, Anne
Bourassa, Cynthia V.
Szuto, Anna
Levert, Annie
Dobrzeniecka, Sylvia
Gauthier, Julie
Forlani, Sylvie
Durr, Alexandra
Anheim, Mathieu
Stevanin, Giovanni
Brice, Alexis
Bouchard, Jean-Pierre
Dion, Patrick A.
Dupre, Nicolas
Rouleau, Guy A.
[J]. JAMA NEUROLOGY, 2013, 70 (10) : 1296 - 1301
[3] Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive
Dupre, Nicolas
Bouchard, Jean-Pierre
Gros-Louis, Francois
Roulenu, Guy A.
[J]. M S-MEDECINE SCIENCES, 2007, 23 (03): : 261 - 262
[4] An autosomal recessive ataxia caused by SYNE1 mutations
[J]. Nature Clinical Practice Neurology, 2007, 3 (4): : 182 - 182
[5] SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients
Drumond Gama, Maria Thereza
Houle, Gabrielle
Noreau, Anne
Dionne-Laporte, Alexandre
Dion, Patrick A.
Rouleau, Guy A.
Barsottini, Orlando G. P.
Pedroso, Jose Luiz
[J]. MOVEMENT DISORDERS, 2016, 31 (11) : 1754 - 1756
[6] Predominant motor neuron involvement in autosomal recessive SYNE1 ataxia
Nachbauer, W.
Schossig, A.
Fauth, C.
Poewe, W.
Boesch, S.
[J]. MOVEMENT DISORDERS, 2016, 31 : S342 - S342
[7] A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
Yoshinaga T.
Nakamura K.
Ishikawa M.
Yamaguchi T.
Takano K.
Wakui K.
Kosho T.
Yoshida K.
Fukushima Y.
Sekijima Y.
[J]. Human Genome Variation, 4 (1)
[8] SYNE1-related autosomal recessive cerebellar ataxia
Bouchard, J.-P.
Dupre, N.
Gros-Louis, F.
Rouleau, G. A.
[J]. JOURNAL OF NEUROLOGY, 2007, 254 : 28 - 28
[9] Extended Phenotypes of Autosomal Recessive Cerebellar Ataxia Type 1: Learn From a Novel Mutation of SYNE1 Gene
Lee, T. L.
Chien, C. Y.
Sun, Y. T.
[J]. MOVEMENT DISORDERS, 2023, 38 : S327 - S329
[10] SYNE1 mutations cause adult onset autosomal recessive ataxia with retained reflexes in Brazilian patients
Drumond Gama, Maria Thereza
Pedroso, Jose Luiz
Barsottini, Orlando
Noreau, Anne
Houle, Gabrielle
Dionne-Laporte, Alexandre
Dion, Patrick
Rouleau, Guy
[J]. NEUROLOGY, 2017, 88

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