Results 91 to 100 of about 333,621 (210)

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2‐Related Centronuclear Myopathy Mouse Model

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile, Arnould David, Velarde Mathias, Allibert Valentine, Paret Chloé, Debelley Quentin, Kizilkilic Esra, Chambon Sidney, Girard Emmanuelle, Collin Louise, Gensel Alexandre, Castells Josiane, Pasternack Aja, Bowen Maximilien, Morel Baptiste, Hourdé Christophe, Laurent Schaeffer, Ritvos Olli, Bitoun Marc, Mounier Rémi, Freyssenet Damien   +20 more
wiley   +1 more source

Necrotising autoimmune myopathy

, 2017
Necrotising Autoimmune Myopathy is a subacute proximal myopathy with high creatine kinase levels and biopsy findings of necrotic and regenerating fibres with minimal inflammation.
Catherine Ashton, Merrilee Needham
core   +1 more source

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Quantitative muscle MRI is increasingly used to assess structural muscle damage in inherited myopathies, but its application in primary mitochondrial myopathies (PMM) has not been systematically evaluated in large cohorts. Because PMM are clinically and genetically heterogeneous, objective imaging biomarkers are needed to quantify ...
Ana Bermejo‐Moriñigo, Paloma Martín‐Jiménez, Violeta González‐Méndez, Laura Bermejo‐Guerrero, Luz Edith Ochoa, Cristina Martín‐Arriscado, Andrea Alcalá‐Galiano, Cristina Casado‐Pérez, María Navarro‐Riquelme, Rocío Garrido‐Moraga, Adrián González Quintana, Alberto Blázquez, Cristina Domínguez‐González   +12 more
wiley   +1 more source

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

Diagnostic Performance of the Strength‐Duration Test for Bedside Screening of Critical Illness Polyneuropathy and/or Myopathy: A Prospective, Cross‐Sectional Study

Muscle &Nerve, Volume 74, Issue 4, Page 1212-1219, October 2026.
ABSTRACT Introduction/Aims Critical illness polyneuropathy and/or myopathy (CIP/CIM) is a major cause of weakness in the intensive care unit (ICU). The availability of conventional electrodiagnostic testing may be limited. Alternative electrophysiologic methods, including the strength‐duration test (SDT) and the stimulus electrodiagnosis test (SET ...
José Roberto de Deus Macedo, Emerson Fachin‐Martins, Marilia Mendes Rodrigues, Marta Rodrigues de Carvalho, Rubens Nelson Morato Fernandez, Paulo Eugênio Silva   +5 more
wiley   +1 more source

Distal myopathy caused by homozygous missense mutations in the nebulin gene

, 2007
We describe a novel, recessively inherited distal myopathy caused by homozygous missense mutations in the nebulin gene (NEB), in which other combinations of mutations are known to cause nemaline (rod) myopathy (NM).
Udd, Bjarne, Hackman, Peter, Pelin, Katarina, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Kalimo, Hannu,, Nuutinen, Elina, Paetau, Anders, Sewry, Caroline   +8 more
core   +1 more source

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy [PDF]

, 2018
Introduction Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 ...
Ruggieri, Alessandra, Federici, Luca, Mora, Marina, Scherer, Stephen W, Novelli, Giuseppe, Antozzi, Carlo, Marshall, Christian R, Minassian, Berge A, Zanotti, Simona, Massa, Roberto, Pasanisi, Maria B, Terracciano, Chiara, D′Apice, Maria R, Saredi, Simona, Brancati, Francesco, Morandi, Lucia, Maggi, Lorenzo, Sangiuolo, Federica   +17 more
core   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Complications and outcomes of standing flank versus ventral midline laparotomy for equine nephrosplenic entrapment

Equine Veterinary Education, Volume 38, Issue 10, Page e736-e743, October 2026.
Summary Background Nephrosplenic entrapment (NSE) is a common surgical colic in horses. Ventral midline laparotomy (VML) under general anaesthesia (GA) is the standard approach, whereas standing flank laparotomy (SFL) is an alternative approach for surgical correction. However, direct comparisons between these approaches are lacking.
V. Santalucia, A. J. Tatz, B. Daeem, R. Dahan, M. Quint, G. Kelmer   +5 more
wiley   +1 more source

Welander distal myopathy : clinical and genetic studies

, 1998
Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal ...
Gabrielle Åhlberg (19493839)
core   +1 more source