Results 161 to 170 of about 2,143,667 (228)

Extensive dystrophic calcinosis in dermatomyositis with concurrent breast carcinoma: an imaging pitfall. [PDF]

Radiol Case Rep
El Bqaq I, Zamani O, Lasri L, Ennouali H, El Fenni J, Saouab R.   +5 more
europepmc   +1 more source

SCN4A Channelopathies: From Disease Mechanisms to Variant Interpretation. [PDF]

Genes (Basel)
D'Ambrosio P, Cipriano L, Pugliese A, Petillo R, Ricciardi D, Habetswallner F, Rodolico C, Priolo M.   +7 more
europepmc   +1 more source

A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights. [PDF]

Front Pediatr
Liao H, Jiang M, Zhong X, Luo X, Qiu H, Pan H, Gan J, Zhong S.   +7 more
europepmc   +1 more source

Mechanism of Action and Therapeutic Potential of Sulforaphane in Skeletal Muscle Diseases: Molecular Pathways and Precision Medicine. [PDF]

Food Sci Nutr
Zhao M, Huang B, Chen J, Li J, Zhu Z, Zhu G, Hu J, Li F, Feng J.   +8 more
europepmc   +1 more source

Extended Inflammatory Osteitis Pubis With Associated Myositis and Femoral Neuropathy in an Amateur Football Player: A Case Report. [PDF]

Clin Case Rep
Kolahi S, Varshochi M, Tahsini Tekantapeh S, Tehrani Ghadim MM, Jahanshahi A.   +4 more
europepmc   +1 more source

A Novel Homozygous MYH2 Variant Causing Early-Onset External Ophthalmoplegia and Proximal Myopathy in a Consanguineous Family. [PDF]

Cureus
Hammad MA, Alhroub W, Isaid A.
europepmc   +1 more source

Between myopathy and mortality: Challenges in the diagnosis of <i>PLOD1</i>-related kyphoscoliotic Ehlers-Danlos syndrome. [PDF]

J Neuromuscul Dis
Vill K, Brunet T, Brugger M, Wagner M, Baumann M, Schatz U, Pechmann A, Hannibal I, Tacke M, Giunta C, Wohlgemuth W, Wildgruber M, Müller-Felber W, Blaschek A, Rohrbach M, Huf V.   +15 more
europepmc   +1 more source

The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases. [PDF]

Cells
Avdonina ED, Kutsev SI, Shestopalov AV.
europepmc   +1 more source

Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy. [PDF]

Hum Mol Genet
Kim ME, Yammine KM, Hickey ET, Matias C, Dubosclard LC, Widrick JJ, Brault JJ, Moghadaszadeh B, Beggs AH.   +8 more
europepmc   +1 more source

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +1 more source