Associated Papers
The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.
Minami K et al.
Internal Medicine (tokyo, Japan), 2018
Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.
Pennisi M et al.
Acta Neurologica Belgica, 2012
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
Rakocević-Stojanović V et al.
Journal of the Neurological Sciences, 2010
Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.
Chen B et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2009
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.
Cafforio G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2008
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
van de Warrenburg BP et al.
Neuromuscular Disorders : Nmd, 2006
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Irobi J et al.
Brain : a Journal of Neurology, 2004
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