相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The distinct genetic pattern of ALS in Turkey and novel mutations
Aslihan Ozoguz et al.
NEUROBIOLOGY OF AGING (2015)
DOMINANT MUSCULAR DYSTROPHY WITH A NOVEL SYNE1 GENE MUTATION
Marina Fanin et al.
MUSCLE & NERVE (2015)
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
Janneke H. M. Schuurs-Hoeijmakers et al.
JOURNAL OF MEDICAL GENETICS (2013)
CEREBELLAR ATAXIA WITH SYNE1 MUTATION ACCOMPANYING MOTOR NEURON DISEASE
Yuishin Izumi et al.
NEUROLOGY (2013)
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Timothy W. Yu et al.
NEURON (2013)
SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia
Anne Noreau et al.
JAMA NEUROLOGY (2013)
Recent Advances in the Genetics of Cerebellar Ataxias
Anna Sailer et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2012)
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
Anna Sailer et al.
NEUROLOGY (2012)
The Autosomal Recessive Cerebellar Ataxias
Mathieu Anheim et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Cognitive Impairment in ARCA-1, a Newly Discovered Pure Cerebellar Ataxia Syndrome
Robert Laforce et al.
CEREBELLUM (2010)
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis
Ruben Attali et al.
HUMAN MOLECULAR GENETICS (2009)
SUN1/2 and Syne/Nesprin-1/2 Complexes Connect Centrosome to the Nucleus during Neurogenesis and Neuronal Migration in Mice
Xiaochang Zhang et al.
NEURON (2009)
Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
Qiuping Zhang et al.
HUMAN MOLECULAR GENETICS (2007)
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
Nicolas Dupre et al.
ANNALS OF NEUROLOGY (2007)
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
Francois Gros-Louis et al.
NATURE GENETICS (2007)
The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300
QP Zhang et al.
GENOMICS (2002)
分享论文
