Results 151 to 160 of about 5,338 (235)

Revisiting the role of ischaemia in familial cardiomyopathy: insights from an NRAP gene-related cardiomyopathy. [PDF]

BMJ Case Rep, 2023
AbdelMassih AF, Al Ali A, Musleh AS, Ramsi M.   +3 more
europepmc   +1 more source

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in <i>NRAP</i>. [PDF]

Genes (Basel)
Onore ME, Caiazza M, Mio C, Scarano G, Di Letto P, Rahman SI, Monda E, Amarelli C, Borrelli RN, Faletra F, Nigro V, Limongelli G, Piluso G.   +12 more
europepmc   +1 more source

Nebulin is differentially expressed in the brain metastases of patients with metastatic breast cancer.

, 2020
Shahan Mamoor
openalex   +2 more sources

Nebulin Deficiency in Adult Muscle Causes Sarcomeric Defects and Muscle-Type Dependent Changes in Trophicity -- Novel Insights in Nemaline Myopathy [PDF]

, 2016
Frank Li
openalex   +1 more source

Aging mechanism for improving the tenderness and taste characteristics of meat. [PDF]

J Anim Sci Technol, 2023
Joo ST, Lee EY, Son YM, Hossain MJ, Kim CJ, Kim SH, Hwang YH.   +6 more
europepmc   +1 more source

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions. [PDF]

Eur J Hum Genet
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL.   +30 more
europepmc   +1 more source

Role of Abelson Helper Integration Site 1, Nebulin, and Paired Box 3 Genes in the Development of Nonsyndromic Strabismus in a Series of Iranian Families: Sequence Analysis and Systematic Review of the Genetics of Nonsyndromic Strabismus. [PDF]

J Curr Ophthalmol, 2023
Rahpeyma M, Sabermoghaddam A, Kiarudi MY, Aghabozorgi AS, Pasdar A.   +4 more
europepmc   +1 more source

Nebulin and titin expression in Duchenne muscular dystrophy appears normal [PDF]

, 1987
Dieter O. Fürst, Rüdiger Nave, Mary Osborn, Klaus Weber, A. Bardosi, Nicoletta Archidiacono, Mariangela Ferro, Valentino Romano, Giovanni Romeo   +8 more
openalex   +1 more source

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways. [PDF]

Front Neurol
Hedberg-Oldfors C, Bedir AZ, Visuttijai K, Michael E, Oldfors A.   +4 more
europepmc   +1 more source

A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness. [PDF]

Cureus
Mizutani H, Misumi Y, Hamanaka K, Tawara N, Miyatake S, Matsumoto N, Ueda M.   +6 more
europepmc   +1 more source