Results 111 to 120 of about 520 (132)

Recent advances in biomarker detection of oral squamous cell carcinoma. [PDF]

Front Oncol
Liu L, Zhong X, Zhong Y, Li L.
europepmc   +1 more source

Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]

Rev Neurol
Ros-Arlanzón P, Pelegrín-Durá L, Aledo-Sala C, Moreno-Navarro L, Vaamonde-Esteban Y, Muñoz-Ambit A, Sánchez-Pérez R, Díaz-Marín C.   +7 more
europepmc   +1 more source

Human clearance systems have a layered architecture across tissues and cell types that supports varied proteome compositions. [PDF]

Autophagy
Vinogradov-Talyah E, Edri B, Ravkaie L, Lazarescu O, Gharra F, Jubran J, Ben-Zvi A, Yeger-Lotem E.   +7 more
europepmc   +1 more source

An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review. [PDF]

Tunis Med
Safi F, Feki M, Ben Hmadou H, Dammak A, Gargouri R, Loukil M, Hammami R.   +6 more
europepmc   +1 more source

Super-Enhancer-Associated Gene 3-Hydroxybutyrate Dehydrogenase 1 Increases Intramuscular Fat Deposition of Yaks (<i>Bos grunniens</i>). [PDF]

Foods
Meng X, Ma J, Yin Y, Xie Z, Yue B, Wang H.   +5 more
europepmc   +1 more source

P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8 [PDF]

Neuromuscular Disorders, 2022
Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene (KLHL40). To date, only protein-altering pathogenic variants in KLHL40 have been implicated in NEM8.
E Rivas, E Oates, J Clayton
exaly   +4 more sources

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KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Journal of Neurology, 2016
Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Neuromuscular transmission defects have recently been reported in several patients with congenital myopathies (CM).
Daniel Natera-De Benito, A Nascimento, C Jou   +2 more
exaly   +6 more sources

Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state

Brain and Development, 2015
We report a case of nemaline myopathy with KLHL40 mutation, presenting as congenital totally locked-in state. At birth, a male patient developed hydrops fetalis, which was diagnosed based on the generalized edema and pleural effusion and could perform no significant spontaneous movements.
Ichizo Nishino, Takao Togawa, Tokio Sugiura   +2 more
exaly   +4 more sources

160PDeveloping KLHL40 gene replacement therapy for congenital myopathy in a preclinical mouse model

Neuromuscular Disorders
S. Coleman, J. McNulty, V. Gupta
exaly   +3 more sources