Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene

Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1 ‐ and SOD1 ‐linked ALS

(2016) Seiji Watanabe et al.   EMBO Molecular Medicine

Loss-of-function mutations in theSIGMAR1gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+signalling

(2016) Elisa Gregianin et al.   HUMAN MOLECULAR GENETICS

SIGMAR1mutation associated with autosomal recessive Silver-like syndrome

(2016) Alejandro Horga et al.   NEUROLOGY

IsSIGMAR1a confirmed FTD/MND gene?

(2015) Stuart Pickering-Brown et al.   BRAIN

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration

(2015) Nathalie Bernard-Marissal et al.   BRAIN

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia

(2015) Muhammad Ikram Ullah et al.   NEUROGENETICS

A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy

(2015) X. Li et al.   NEUROLOGY

Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis

(2014) Hee-Jung Kim et al.   NEUROBIOLOGY OF AGING

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study

(2010) T.A. Mavlyutov et al.   NEUROSCIENCE