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1 . Academic Journal
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands
저자
by
van Kleef, Esmee S.B.
;
van de Camp, Sanne A.J.H.
;
Groothuis, Jan T.
;
Erasmus, Corrie E.
;
Gaytant, Michael A.
, et al.
소스
In
Neuromuscular Disorders
October 2024 43:29-38
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7 . Academic Journal
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
저자
by
Natasha Ranu
;
Jenni Laitila
;
Hannah F. Dugdale
;
Jennifer Mariano
;
Justin S. Kolb
, et al.
소스
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
Respiratory muscle function in patients with nemaline myopathy
저자
by
van Kleef, Esmee S.B.
;
van Doorn, Jeroen L.M.
;
Gaytant, Michael A.
;
de Weerd, Willemien
;
Vosse, Bettine A.H.
, et al.
소스
In
Neuromuscular Disorders
August 2022 32(8):654-663
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7 . Academic Journal
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
저자
by
Ranu, Natasha
;
Laitila, Jenni
;
Dugdale, Hannah F.
;
Mariano, Jennifer
;
Kolb, Justin S.
, et al.
소스
Acta Neuropathologica Communications
. 10(1)
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7 . Academic Journal
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.
저자
by
Laitila J
;
Seaborne RAE
;
Ranu N
;
Kolb JS
;
Wallgren-Pettersson C
, et al.
소스
Publisher:
Cambridge Univ. Press
Country of Publication:
England
NLM ID:
0266262
Publication Model:
Print-Electronic
Cited Medium:
Internet
ISSN:
1469-7793 (Electronic)
Linking ISSN:
00223751
NLM ISO Abbreviation:
J Physiol
Subsets:
MEDLINE
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7 . Academic Journal
A clinical scoring system for congenital contractural arachnodactyly
저자
by
Meerschaut, Ilse
;
De Coninck, Shana
;
Steyaert, Wouter
;
Barnicoat, Angela
;
Bayat, Allan
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 22(1):124-131
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7 . Academic Journal
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
저자
by
Jenni M. Laitila
;
Elyshia L. McNamara
;
Catherine D. Wingate
;
Hayley Goullee
;
Jacob A. Ross
, et al.
소스
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)
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7 . Academic Journal
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
저자
by
Juliana Gurgel-Giannetti
;
Lucas Santos Souza
;
Guilherme L. Yamamoto
;
Marina Belisario
;
Monize Lazar
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11995 (2022)
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7 . Academic Journal
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
저자
by
Ross, Jacob A.
;
Levy, Yotam
;
Ripolone, Michela
;
Kolb, Justin S.
;
Turmaine, Mark
, et al.
소스
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease
. 138(3):477-495
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7 . Academic Journal
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
저자
by
Laitila, Jenni M.
;
McNamara, Elyshia L.
;
Wingate, Catherine D.
;
Goullee, Hayley
;
Ross, Jacob A.
, et al.
소스
Acta Neuropathologica Communications
. 8(1)
Open Access (BioMed Central)
Web of Science
Scopus
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