Results 51 to 60 of about 1,745 (185)

Corpos de inclusão citoplasmática: estudo em diversas doenças e revisão da literatura Inclusion cytoplasmic bodies: a study in several diseases and a literature review

Arquivos de Neuro-Psiquiatria, 1996
Estudamos 16 casos entre 1400 biópsias musculares que apresentavam vacúolos marginados, cujo aspecto histológico sugeria corpos de inclusão citoplasmáticos. Procuramos correlacionar os dados clínicos, laboratoriais e histopatológicos, a fim de determinar
Rosana Herminia Scola, Lineu Cesar Werneck, Célia Regina Cavichiolo Franco   +2 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)

Rinsho Shinkeigaku, 2012
Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy, for which new nomenclature "GNE myopathy" is now proposed, is an autosomal recessive disease that preferentially affects tibialis anterior and hamstrings muscles in young adults.
Ichizo, Nishino, Satoru, Noguchi
openaire   +3 more sources

Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]

, 2016
Peer ...
Hackman, Peter, Sarparanta, Jaakko, Savarese, Marco, Udd, Bjarne, Vihola, Anna   +4 more
core   +2 more sources

Genetic aberrations in macroautophagy genes leading to diseases [PDF]

, 2018
The catabolic process of macroautophagy, through the rapid degradation of unwanted cellular components, is involved in a multitude of cellular and organismal functions that are essential to maintain homeostasis.
Klionsky, Daniel J, Reggiori, Fulvio, van Beek, Nienke   +2 more
core   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Thymidine kinase 2 deficiency (TK2d) is an ultra‐rare autosomal recessive mitochondrial myopathy with variable presentations, including late‐onset forms beginning after age 12. Unlike early‐onset disease, the natural history of late‐onset TK2d remains poorly defined.
Paloma Martín‐Jimenez, Laura Bermejo‐Guerrero, Luz Edith Ochoa, María Navarro‐Riquelme, Rocío Garrido‐Moraga, Aurelio Hernández‐Laín, Ana Hernández‐Voth, Adrián González Quintana, Ana Bermejo‐Moriñigo, Violeta González‐Méndez, Cristina Martín‐Arriscado Arroba, Dimitrii Smirnov, Nikita Konstantinovskiy, Joaquín Arenas, Miguel Ángel Martin, Alberto Blázquez, Cristina Domínguez‐González   +16 more
wiley   +1 more source

Sporadic inclusion body myositis: an unsolved mystery [PDF]

, 2009
Sporadic inclusion body myositis (sIBM) is considered to be the most common acquired muscle disease associated with aging. It is a disabling disorder still without effective treatment.
Hanna, M, Holton, J, Machado, P, Miller, A   +3 more
core  

A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1 [PDF]

, 2012
We describe a novel autosomal dominant hereditary inclusion body myopathy (HIBM) that clinically mimics limb girdle muscular dystrophy in a Chinese family. We performed a detailed clinical assessment of 36 individuals spanning four generations.
A Starling, CA Saavedra-Matiz, CC Weihl, CM Jay, Feng Zhang, GD Watts, GR Abecasis, I Eisenberg, I Eisenberg, I Nishino, I Nonaka, Jianping Jia, JM Gilchrist, JR O’Connell, Jun Yu, LG Goldfarb, MA Hauser, MB Harms, Meng Zhang, Min Wang, MJ Kovach, N Darin, P Hackman, P Salmikangas, PJ Jongen, S Sandell, SH Horowitz, T Martinsson, T Martinsson, Tetsuo Ashizawa, Xin Li, Xingang Li, Y Motozaki, Yan Lu, Yun Li, Yuwei Da, Z Argov, Z Argov, Z Argov   +38 more
core   +3 more sources