Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China

[1]  H. Lv,et al.  GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy , 2021, Annals of clinical and translational neurology.

[2]  H. Lv,et al.  The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3 , 2021, Brain : a journal of neurology.

[3]  Xilu Wang,et al.  5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy. , 2020, Brain : a journal of neurology.

[4]  R. Hanajima,et al.  CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations , 2020, medRxiv.

[5]  A. Kakita,et al.  Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12 , 2020, Acta Neuropathologica Communications.

[6]  Y. Liang,et al.  Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. , 2020, American journal of human genetics.

[7]  Shinichi Morishita,et al.  Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease , 2019, Nature Genetics.

[8]  C. Mazia.  Oculopharyngodistal myopathy is a distinct entity: Clinical and genetic features of 47 patients , 2011 .

[9]  P. Box.  Autosomal recessive oculopharyngodistal myopathy: A distinct phenotypical, histological, and genetic entity , 2005 .

[10]  B. V. van Engelen,et al.  Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity , 2004, Journal of Neurology, Neurosurgery & Psychiatry.

[11]  I. Nonaka,et al.  Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy , 2001, Neuromuscular Disorders.