A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Maria L. Rocha; Carsten Dittmayer; Akinori Uruha; Dirk Korinth; Rabih Chaoui; Dietmar Schlembach; Rainer Rossi; Katarina Pelin; Eun Kyung Suk; Simone Schmid; Hans H. Goebel; Markus Schuelke; Werner Stenzel; Benjamin Englert

doi:10.1016/j.nmd.2020.11.014

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Maria L. Rocha, Carsten Dittmayer, Akinori Uruha, Dirk Korinth, Rabih Chaoui, Dietmar Schlembach, Rainer Rossi, Katarina Pelin, Eun Kyung Suk, Simone Schmid, Hans H. Goebel, Markus Schuelke, Werner Stenzel, Benjamin Englert

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Neuromuscular Disorders
Vuosikerta	31
Numero	3
Sivut	239-245
Sivumäärä	7
ISSN	0960-8966
DOI - pysyväislinkit	https://doi.org/10.1016/j.nmd.2020.11.014
Tila	Julkaistu - maalisk. 2021
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3112 Neurotieteet
3124 Neurologia ja psykiatria

Pääsy asiakirjaan

10.1016/j.nmd.2020.11.014

Siteeraa tätä

Rocha, M. L., Dittmayer, C., Uruha, A., Korinth, D., Chaoui, R., Schlembach, D., Rossi, R., Pelin, K., Suk, E. K., Schmid, S., Goebel, H. H., Schuelke, M., Stenzel, W., & Englert, B. (2021). A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation. Neuromuscular Disorders, 31(3), 239-245. https://doi.org/10.1016/j.nmd.2020.11.014

@article{10ff55bf1fad45edae92093e893c07a3,

title = "A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation",

keywords = "Nemaline myopathy, NEB, Arthrogryposis, Large-scale electron microscopy, 3112 Neurosciences, 3124 Neurology and psychiatry",

author = "Rocha, {Maria L.} and Carsten Dittmayer and Akinori Uruha and Dirk Korinth and Rabih Chaoui and Dietmar Schlembach and Rainer Rossi and Katarina Pelin and Suk, {Eun Kyung} and Simone Schmid and Goebel, {Hans H.} and Markus Schuelke and Werner Stenzel and Benjamin Englert",

year = "2021",

month = mar,

doi = "10.1016/j.nmd.2020.11.014",

language = "English",

volume = "31",

pages = "239--245",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Scientific Publ. Co",

number = "3",

}

Rocha, ML, Dittmayer, C, Uruha, A, Korinth, D, Chaoui, R, Schlembach, D, Rossi, R, Pelin, K, Suk, EK, Schmid, S, Goebel, HH, Schuelke, M, Stenzel, W & Englert, B 2021, 'A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation', Neuromuscular Disorders, Vuosikerta 31, Nro 3, Sivut 239-245. https://doi.org/10.1016/j.nmd.2020.11.014

TY - JOUR

T1 - A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

AU - Rocha, Maria L.

AU - Dittmayer, Carsten

AU - Uruha, Akinori

AU - Korinth, Dirk

AU - Chaoui, Rabih

AU - Schlembach, Dietmar

AU - Rossi, Rainer

AU - Pelin, Katarina

AU - Suk, Eun Kyung

AU - Schmid, Simone

AU - Goebel, Hans H.

AU - Schuelke, Markus

AU - Stenzel, Werner

AU - Englert, Benjamin

PY - 2021/3

Y1 - 2021/3

KW - Nemaline myopathy

KW - NEB

KW - Arthrogryposis

KW - Large-scale electron microscopy

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1016/j.nmd.2020.11.014

DO - 10.1016/j.nmd.2020.11.014

M3 - Article

VL - 31

SP - 239

EP - 245

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 3

ER -