Results 151 to 160 of about 4,206 (207)

A novel gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features [PDF]

core   +1 more source

A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia. [PDF]

Cureus
Alghanmi BM, Alghanmi MM, Alhayli MR, Taffour RM, Alghubayshi SM.   +4 more
europepmc   +1 more source

Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. [PDF]

Hum Mol Genet
Fabian L, Karimi E, Farman GP, Gohlke J, Ottenheijm CAC, Granzier HL, Dowling JJ.   +6 more
europepmc   +1 more source

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families [PDF]

, 2015

core   +1 more source

A Case of Nemaline Myopathy With Sleep-Related Hypoventilation Diagnosed Using Polysomnography During Daytime Napping. [PDF]

Cureus
Tamura K, Komuta K, Yamauchi K, Yokoyama M, Morishita H.   +4 more
europepmc   +1 more source

Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy. [PDF]

J Gen Physiol
Galli RA, Borsboom TC, Gineste C, Brocca L, Rossi M, Hwee DT, Malik FI, Bottinelli R, Gondin J, Pellegrino MA, de Winter JM, Ottenheijm CAC.   +11 more
europepmc   +1 more source

Nemaline myopathy mechanisms [PDF]

Nature Genetics, 1995
openaire   +1 more source

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. [PDF]

Acta Neuropathol
Karimi E, Gohlke J, van der Borgh M, Lindqvist J, Hourani Z, Kolb J, Cossette S, Lawlor MW, Ottenheijm C, Granzier H.   +9 more
europepmc   +1 more source

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center. [PDF]

Acta Neurol Belg
Haidong L, Yin L, Ping C, Xianzhao Z, Qi Q, Xiaoli M, Zheng L, Wenhao C, Yaguang Z, Qianqian Q.   +9 more
europepmc   +1 more source