SYNE1 mutations cause adult onset autosomal recessive ataxia with retained reflexes in Brazilian patients

被引：0
|
作者：
Drumond Gama, Maria Thereza [1 ]
Pedroso, Jose Luiz [1 ]
Barsottini, Orlando [1 ]
Noreau, Anne [2 ]
Houle, Gabrielle [2 ]
Dionne-Laporte, Alexandre [2 ]
Dion, Patrick [2 ]
Rouleau, Guy [2 ]
机构：
[1] Univ Fed Sao Paulo, Sao Paulo, Brazil
[2] Montreal Neurol Hosp & Inst, Montreal, PQ, Canada
来源：
NEUROLOGY | 2017年 / 88卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P3.004
引用
收藏
页数：2
相关论文
共 50 条
  • [41] Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study
    Laszlo Szpisjak
    Gabor Szaraz
    Andras Salamon
    Viola L. Nemeth
    Noemi Szepfalusi
    Gabor Veres
    Balint Kincses
    Zoltan Maroti
    Tibor Kalmar
    Malgorzata Rydzanicz
    Rafal Ploski
    Peter Klivenyi
    Denes Zadori
    [J]. BMC Neuroscience, 22
  • [42] Recessive Mutations in an Ubiquitin-Like Gene Cause a Late-Onset Recessive Cerebellar Ataxia
    Brais, Bernard
    Demers-Lamarche, Julie
    Tetreault, Martine
    Srour, Myriam
    Bouchard, Jean-Pierre
    Dicaire, Marie-Josee
    Mathieu, Jean
    Posturna, Ronald
    Lesage, Jacques
    Komatsu, Masaaki
    Tanaka, Keiji
    Richardson, John
    Parker, Alex J.
    Thiffault, Isabelle
    [J]. NEUROLOGY, 2009, 72 (11) : A343 - A344
  • [43] Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study
    Szpisjak, Laszlo
    Szaraz, Gabor
    Salamon, Andras
    Nemeth, Viola L.
    Szepfalusi, Noemi
    Veres, Gabor
    Kincses, Balint
    Maroti, Zoltan
    Kalmar, Tibor
    Rydzanicz, Malgorzata
    Ploski, Rafal
    Klivenyi, Peter
    Zadori, Denes
    [J]. BMC NEUROSCIENCE, 2021, 22 (01)
  • [44] Mutations in the parkin gene are a common cause for autosomal recessive early onset parkinsonism in Europe
    Brice, A
    Lücking, CB
    Abbas, N
    Dürr, A
    Ricard, S
    Bonifati, V
    De Michele, G
    Wood, NW
    Gasser, T
    Breteler, M
    Harhangi, S
    Oostra, B
    Filla, A
    Meco, G
    Denefle, P
    Agid, Y
    [J]. NEUROLOGY, 1999, 52 (06) : A554 - A555
  • [45] TBCD mutations cause autosomal recessive early childhood-onset neurodegenerative encephalopathy
    Miyake, N.
    Chihara, T.
    Miura, M.
    Shimizu, H.
    Kakita, A.
    Matsumoto, N.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 362 - 363
  • [46] Expanding the clinical phenotype of autosomal recessive spinocerebellar ataxia with Adult onset; a collection of case series
    Persaud, A.
    Oguh, O.
    [J]. MOVEMENT DISORDERS, 2018, 33 : S59 - S60
  • [47] Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
    Phulpagar, Prashant
    Holla, Vikram V.
    Tomar, Deepti
    Kamble, Nitish
    Yadav, Ravi
    Pal, Pramod Kumar
    Muthusamy, Babylakshmi
    [J]. JOURNAL OF HUMAN GENETICS, 2023, 68 (12) : 859 - 866
  • [48] Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
    Prashant Phulpagar
    Vikram V. Holla
    Deepti Tomar
    Nitish Kamble
    Ravi Yadav
    Pramod Kumar Pal
    Babylakshmi Muthusamy
    [J]. Journal of Human Genetics, 2023, 68 : 859 - 866
  • [49] Pyroxd1 mutations cause recessive adult-onset slowly progressive LGMD
    Palmio, J.
    Sainio, M.
    Valipakka, S.
    Jokela, M.
    Auranen, M.
    Paetau, A.
    Huovinen, S.
    Lapatto, H.
    Ylikallio, E.
    Udd, B.
    Tyynismaa, H.
    [J]. NEUROMUSCULAR DISORDERS, 2018, 28 : S108 - S108
  • [50] Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
    Cecilia Mancini
    Stefano Nassani
    Yiran Guo
    Yulan Chen
    Elisa Giorgio
    Alessandro Brussino
    Eleonora Di Gregorio
    Simona Cavalieri
    Nicola Lo Buono
    Ada Funaro
    Nicola Renato Pizio
    Bruce Nmezi
    Aija Kyttala
    Filippo Maria Santorelli
    Quasar Salem Padiath
    Hakon Hakonarson
    Hao Zhang
    Alfredo Brusco
    [J]. Journal of Neurology, 2015, 262 : 173 - 178
12345