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
收藏
页码:80 / 85
页数:5
相关论文
共 50 条
  • [21] CEREBELLAR ATAXIA WITH SYNE1 MUTATION ACCOMPANYING MOTOR NEURON DISEASE
    Izumi, Yuishin
    Miyamoto, Ryosuke
    Morino, Hiroyuki
    Yoshizawa, Akio
    Nishinaka, Kazuto
    Udaka, Fukashi
    Kameyama, Masakuni
    Maruyama, Hirofumi
    Kawakami, Hideshi
    [J]. NEUROLOGY, 2013, 80 (06) : 600 - 601
  • [22] Cerebellar Ataxia with SYNE1 Mutation Accompanying Motor Neuron Disease
    Izumi, Yuishin
    Miyamoto, Ryosuke
    Morino, Hiroyuki
    Yoshizawa, Akio
    Nishinaka, Kazuto
    Udaka, Fukashi
    Kameyama, Masakuni
    Maruyama, Hirofumi
    Kawakami, Hideshi
    [J]. NEUROLOGY, 2013, 80
  • [23] UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
    Duan, Ranhui
    Shi, Yuting
    Yu, Li
    Zhang, Gehan
    Li, Jia
    Lin, Yunting
    Guo, Jifeng
    Wang, Junling
    Shen, Lu
    Jiang, Hong
    Wang, Guanghui
    Tang, Beisha
    [J]. PLOS ONE, 2016, 11 (02):
  • [24] Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
    Mokhtari, Diana
    Jahanpanah, Mohammad
    Jabbari, Nasim
    Azari, Hamed
    Davarnia, Sana
    Mokaber, Haleh
    Arish, Sara
    Molatefi, Rasol
    Abbasi, Vahid
    Davarnia, Behzad
    [J]. HUMAN GENOME VARIATION, 2024, 11 (01)
  • [25] Unique cerebellar-cerebral form of autosomal recessive ataxia
    Matsubara, E
    Nagata, T
    Kageyama, Y
    Shiote, M
    Namba, R
    Nagano, I
    Shoji, M
    Abe, K
    [J]. TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2005, 207 (01): : 81 - 85
  • [26] SYNE1 cerebellar ataxia "plus" syndrome: characterizing the skeletal muscle and cardiopulmonary phenotype
    Saade, D.
    Drakou, E.
    Donkervoort, S.
    Monteleone, B.
    Brasington, C.
    Wiggs, E.
    LehIcy, T.
    Foley, A.
    Bonnemann, C.
    [J]. NEUROMUSCULAR DISORDERS, 2019, 29 : S138 - S138
  • [27] Cognitive and Psychiatric Evaluation in SYNE1 Ataxia
    Drumond Gama, Maria Thereza
    Braga-Neto, Pedro
    Dutra, Livia Almeida
    Alessi, Helena
    Maria, Lilia Alves
    Gadelha, Ary Araripe
    Ortiz, Bruno Bertolucci
    Kunii, Ilda
    Correia-Silva, Silvia Regina
    Dias da Silva, Magnus R.
    Dion, Patrick A.
    Rouleau, Guy A.
    Franca, Marcondes Cavalcante, Jr.
    Barsottini, Orlando G. P.
    Pedroso, Jose Luiz
    [J]. CEREBELLUM, 2019, 18 (04): : 731 - 737
  • [28] Cognitive and Psychiatric Evaluation in SYNE1 Ataxia
    Maria Thereza Drumond Gama
    Pedro Braga-Neto
    Livia Almeida Dutra
    Helena Alessi
    Lilia Alves Maria
    Ary Araripe Gadelha
    Bruno Bertolucci Ortiz
    Ilda Kunii
    Silvia Regina Correia-Silva
    Magnus R. Dias da Silva
    Patrick A. Dion
    Guy A. Rouleau
    Marcondes Cavalcante França
    Orlando G. P. Barsottini
    José Luiz Pedroso
    [J]. The Cerebellum, 2019, 18 : 731 - 737
  • [29] SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey
    Yucesan, E.
    Iseri, Sibel A. Ugur
    Bilgic, B.
    Gormez, Z.
    Gungor, B. Bakir
    Sarac, A.
    Ozdemir, O.
    Sagiroglu, M.
    Gurvit, H.
    Hanagasi, H.
    Ozbek, U.
    [J]. NEUROLOGICAL SCIENCES, 2017, 38 (12) : 2203 - 2207
  • [30] AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA OF ADULT ONSET DUE TO STUB1 MUTATIONS
    Depondt, Chantal
    Donatello, Simona
    Simonis, Nicolas
    Rai, Myriam
    van Heurck, Roxane
    Abramowicz, Marc
    D'Hooghe, Marc
    Pandolfo, Massimo
    [J]. NEUROLOGY, 2014, 82 (19) : 1749 - 1750