Results 181 to 190 of about 5,284 (245)

MALE PATIENT WITH NEMALINE MYOPATHY

, 2023
Johanna Castillo Corral, Debora Rocha de Moura Rodrigues de Aguiar, Morgana Ohira Gazzeta, Juan Carlos Vélez Zambrano, Washington A. Bianchi, Breno Valdetaro Bianchi, Camila Aguiar Lomônaco, Linda Olivo Román, Waldomiro Luciago Oliveira, Adrian Bessa Dantas, Marina Porangaba, Dante Valdetaro Bianchi   +11 more
openalex   +1 more source

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report. [PDF]

J Med Case Rep
Gunawardena K, Praveenan S, Dissanayake VHW, Ratnayake P.   +3 more
europepmc   +1 more source

Nemaline Myopathy in a Hypotonic Neonate: Diagnostic Approach for Early Detection and Management. [PDF]

Cureus
Vu A, Nanda S, Chassee T.
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

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

[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy].

, 2018
Kun Huang, Yien Luo, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang, Yue‐Bei Luo   +6 more
openalex   +2 more sources

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

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

core   +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

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report

Milla Laarne, Ali Oghabian, Jenni Laitila, Pirjo Isohanni, Olli Tynninen, Fang Zhao, F. Rostedt, J. Sarparanta, Lydia Sagath, Michael W. Lawlor, Carina Wallgren‐Pettersson, Vilma‐Lotta Lehtokari, Katarina Pelin   +12 more
openalex   +1 more source