Results 81 to 90 of about 25,797 (180)

The Role of C/EBP‐Homologous Protein in Idiopathic Inflammatory Myopathies

Journal of Cellular and Molecular Medicine, Volume 29, Issue 21, November 2025.
ABSTRACT The Idiopathic Inflammatory Myopathies (IIMs) are a group of autoimmune disorders characterised by persistent muscle inflammation and diverse clinical manifestations. Common symptoms include muscle weakness, myalgia, and elevated serum creatine kinase levels. Recent findings highlight the relevance of muscle fibre necrosis in IIMs.
Monica Sciacco, Patrizia Ciscato, Letizia Bertolasi, Maria Guttuso, Stefania Corti, Deborah Mattinzoli, Masami Ikeata, Giuseppe Castellano, Giacomo Pietro Comi, Simona Zanotti   +9 more
wiley   +1 more source

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

, 2010
We report a family with autosomal dominant centronuclear (myotubular) myopathy caused by a novel mutation, p.A618D, in dynamin 2 (DNM2). The 64-year-old mother and 26-year-old daughter had neonatal onset with hypotonia and weak suckling, followed by ...
Böhm, Johann, Toussaint, Anne, Laporte, Jocelyn, Kalimo, Hannu, Wallgren-Pettersson, Carina, Melberg, Atle,, Stålberg, Erik,, Stålberg, Erik, Melberg, Atle, Kalimo, Hannu,, Kretz, Christine   +10 more
core   +1 more source

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Orphanet Journal of Rare Diseases, 2010
Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype.
Kurul Semra, Çakmakçı Handan, Ortaç Ragıp, Yiş Uluç, Böhm Johann, Dirik Eray, Laporte Jocelyn   +6 more
doaj   +1 more source

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

The Journal of Physiology, Volume 603, Issue 22, Page 6949-6977, November 15, 2025.
Abstract figure legend Intrafusal muscles contained within muscle spindles are endowed with ryanodie receptor 1 (RyR1) calcium channels and participate in proprioceptor function. Mutations in RyR1 linked to severe RYR1‐congenital myopathies affect calcium release from both extrafusal as well as intrafusal muscles.
Alexis Ruiz, Sofia Benucci, Hervé Meier, Georg Schultz, Katarzyna Buczak, Christoph Handschin, Rodrigo C. G. Pena, Susan Treves, Francesco Zorzato   +8 more
wiley   +1 more source

A novel transgenic reporter of extracellular acidification in zebrafish elucidates skeletal muscle T‐tubule pH regulation

Developmental Dynamics, Volume 254, Issue 9, Page 1068-1079, September 2025.
Abstract Disruption of extracellular pH and proton‐sensing can profoundly impact cellular and protein functions, leading to developmental defects. To visualize changes in extracellular pH in the developing embryo, we generated a zebrafish transgenic line that ubiquitously expresses the ratiometric pH‐sensitive fluorescent protein pHluorin2, tethered to
Leif R. Neitzel, Maya Silver, Aaron H. Wasserman, Samantha Rea, Charles C. Hong, Charles H. Williams   +5 more
wiley   +1 more source

Centronuclear myopathy in a Labrador Retriever presenting for evaluation of a ‘bunny‐hopping’ gait

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract A 3‐year‐old female neutered Labrador Retriever presented with a chronic history of ‘bunny‐hopping’ gait, presumed secondary to hip dysplasia. They exhibited moderate exercise intolerance, developing a stiff, short‐strided gait and collapsing into sternal recumbency after a brief period of exercise.
Aishling Lande, Richard Lawn, Sophie Martin   +2 more
wiley   +1 more source

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy

British Journal of Pharmacology, Volume 182, Issue 13, Page 2930-2949, July 2025.
Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge, Nathalie Bourg, Emilie Pellier, Johana Tournois, Jerome Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, Xavier Nissan   +10 more
wiley   +1 more source

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres

, 2015
Nuclear centralisation and internalisation, sarcoplasmic radiating strands and type 1 muscle fibre predominance and hypotrophy characterise dynamin-2 (DNM2) associated centronuclear myopathy, whereas necklace fibres are typically seen in late onset ...
Jacobsson, Johan, Libelius, Rolf,, Romero, N. B., Oldfors, Anders, Casar-Borota, O., Jacobsson, Johan,, Libelius, R., Romero, Norma Beatriz, Oldfors, Anders,, Malfatti, Edoardo, Libelius, Rolf, Hedberg Oldfors, Carola, Oldfors Hedberg, Carola,, Malfatti, E., Casar-Borota, Olivera, Casar-Borota, Olivera,, Oldfors, Carola Hedberg, Jacobsson, J.   +17 more
core   +1 more source

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core   +1 more source

Brucella canis in two juvenile labrador retriever littermates with no known travel history

Veterinary Record Case Reports, Volume 13, Issue 2, June 2025.
Abstract Two labrador retriever littermates presented separately to investigate chronic lethargy and shifting lameness. In both cases, clinical examination revealed a multi‐limb lameness. Neither the patients nor their dam or sire had a travel history outside the UK.
Amy Lord, Oliver Russell, Ombeline McGregor, Robert Dudley, Cassia Hare, Barbara Skelly   +5 more
wiley   +1 more source