Results 91 to 100 of about 14,641 (210)

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

Clinics, 2011
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of ...
Ana F. B. Ferreira, Mary S. Carvalho, Maria Bernadete D. Resende, Alda Wakamatsu, Umbertina Conti Reed, Suely Kazue Nagahashi Marie   +5 more
doaj   +1 more source

The muscle protein dysferlin accumulates in the Alzheimer brain [PDF]

, 2006
Dysferlin is a transmembrane protein that is highly expressed in muscle. Dysferlin mutations cause limb-girdle dystrophy type 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin has also been described in neural tissue.
James E. Galvin, Divya Palamand, Jeff Strider, Margherita Milone, Alan Pestronk, M Aoki, V Askanas, D Bansal, D Bansal, R Bashir, S Britton, B Caughey, G Cenacchi, DB Davis, B Dermaut, KR Doherty, JE Galvin, JE Galvin, JE Galvin, JE Galvin, JE Galvin, M Goedert, YK Hayashi, M Ho, M Ho, EP Hoffman, PJ Holzfeind, I Illa, Y Ling, G McKhann, JC Morris, S Salani, MC Sharma, MG Spillantini, S Yasunaga   +34 more
core   +1 more source

Elevated Risk of Endometrial Cancer and Precursor Lesions in Patients With Myotonic Dystrophy: A Retrospective Study at a Single Institution in Japan

Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 3, March 2026.
ABSTRACT Aim Myotonic dystrophy (MD) has been associated with an increased risk of endometrial cancer (EC) in Western countries; however, data from Japan are limited. This study aimed to evaluate the incidence and clinical characteristics of EC and its precursor lesion, atypical endometrial hyperplasia (AEH), in Japanese patients with MD.
Ruka Hano, Hirofumi Ando, Marina Fujioka, Masako Nakajima, Manaka Shinagawa, Hodaka Takeuchi, Mitsuko Shinagawa, Hisanori Kobara, Tsuneaki Yoshinaga, Tsutomu Miyamoto   +9 more
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9

Stem Cell Research
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu, Jiaxi Shen, Zongkuai Yang, Hangping Fan, Hao Wang, Ping Liang, Tingyu Gong   +6 more
doaj   +1 more source

A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome

Asian Journal of Medical Sciences, 2016
Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
doaj   +1 more source

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Hoen, PAC't, Liu, X, Tucker, A, Vinciotti, V   +3 more
core  

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry [PDF]

, 2016
Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies.
Evangelista, T, Fernandez-Torron, R, Guglieri, M, Hilton-Jones, D, Hudson, J, Lochmüller, H, Lunt, P, Norwood, F, Orrell, R, Rafferty, K, Smith, D, Williams, M, Willis, T, Wood, L   +13 more
core   +1 more source

Limb-girdle muscular dystrophy in Brazilian children: clinical, histological and molecular characterization

Arquivos de Neuro-Psiquiatria, 2014
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes.
Marco A. Veloso Albuquerque
doaj   +1 more source

Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy [PDF]

, 2010
Background The administration of rituximab (RTX) in vivo results in B-cell depletion, but evidence for multiple mechanisms of action have been reported.
Alberto Lerario, Filippo Cogiamanian, Chiara Marchesi, Marzia Belicchi, Nereo Bresolin, Laura Porretti, Yvan Torrente   +6 more
core   +2 more sources