Search Results - "Labasse, C."

A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

Authors: Staedler K Nectoux J Metay C et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 774-780. Date of Electronic Publication: 2025 Sep 15.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Authors: Labella B Brochier G Beuvin M et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 May; Vol. 13 (3), pp. 388-404. Date of Electronic Publication: 2025 Nov 18.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Phenotypic Diversity in Pediatric Congenital Myasthenic Syndrome: Insights from CHRNE and DPAGT1 Variants.

Authors: Ewida, Aya Al-Qaimari, Dima Shah, Ubaid et al.

Source: Neurology International. Jun2026, Vol. 18 Issue 6, p102. 11p.

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III.

Authors: Lanfranconi, F. Peli, L. Pollastri, L. et al.

Source: Physiological Reports. Feb2026, Vol. 14 Issue 4, p1-19. 19p.

RYR1 -Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.

Authors: Sabbatini, Daniele Gorgoglione, Domenico Minervini, Giovanni et al.

Source: Biomolecules (2218-273X). Nov2025, Vol. 15 Issue 11, p1599. 28p.

STIM1 GoF Mutants: Genotype–Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum.

Authors: Atzgerstorfer, Lara Prantl, Magdalena Waldhauser, Andrea et al.

Source: Cells (2073-4409). May2026, Vol. 15 Issue 10, p926. 22p.

Estrogens and Antioxidants Prevent the Formation of Tubular Aggregates in Aging Male Mice.

Authors: Rastelli, Giorgia Serano, Matteo Girolami, Barbara et al.

Source: International Journal of Molecular Sciences. Sep2025, Vol. 26 Issue 18, p9122. 19p.

Voluntary Wheel Running Mitigates Disease in an Orai1 Gain-of-Function Mouse Model of Tubular Aggregate Myopathy.

Authors: O'Connor, Thomas N. Zhao, Nan Orciuoli, Haley M. et al.

Source: Cells (2073-4409). Sep2025, Vol. 14 Issue 17, p1383. 26p.

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Authors: Bui, Mai Thao Fernández-Eulate, Gorka Evangelista, Teresinha et al.

Source: Acta Neuropathologica Communications. 12/20/2024, Vol. 12 Issue 1, p1-12. 12p.

Author Index.

Source: European journal of neurology Jun2026 Supplement 1; Vol. 33.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1351-5101

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Authors: Serano, Matteo Fiore, Federica Sorrentino, Vincenzo et al.

Source: Cells (2073-4409). Apr2026, Vol. 15 Issue 7, p635. 20p.

A Gain-of-Function Mutation in the Ca 2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.

Authors: Pérez-Guàrdia, Laura Lafabrie, Emma Diedhiou, Nadège et al.

Source: Cells (2073-4409). Nov2024, Vol. 13 Issue 22, p1829. 14p.

The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis.

Authors: Mishra, Kumudesh Sweetat, Sahar Baraghithy, Saja et al.

Source: Biomolecules (2218-273X). Aug2024, Vol. 14 Issue 8, p893. 16p.

ACTA1 gene regulation in livestock: A multidimensional review on muscle development, meat quality, and genetic applications.

Authors: Ayuti, Siti Rani Shin, Sangsu Kim, Eun Joong et al.

Source: Veterinary World. Aug2025, Vol. 18 Issue 8, p2520-2541. 22p.

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.

Authors: de Feraudy, Yvan Vandroux, Marie Romero, Norma Beatriz et al.

Source: Genome Medicine. 7/9/2024, Vol. 16 Issue 1, p1-15. 15p.

VMA21 deficiency leads to autophagic dysregulation and altered vesicle trafficking in X-linked myopathy with excessive autophagy.

Authors: Suarez CA Pittman SK Inoue M et al.

Source: Acta neuropathologica [Acta Neuropathol] 2026 Jun 26; Vol. 151 (1). Date of Electronic Publication: 2026 Jun 26.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

How the Spreading and Intensity of Interictal Epileptic Activity Are Associated with Visuo-Spatial Skills in Children with Self-Limited Focal Epilepsy with Centro-Temporal Spikes.

Authors: Dontaine, Pauline Rouge, Coralie Urbain, Charline et al.

Source: Brain Sciences (2076-3425). Nov2023, Vol. 13 Issue 11, p1566. 13p.

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Authors: Kraoua, Lilia Jaouadi, Hager Allouche, Mohamed et al.

Source: Molecular Genetics & Genomic Medicine. Jul2022, Vol. 10 Issue 7, p1-8. 8p.

Author Index.

Source: European journal of neurology Jun2025 Supplement 1; Vol. 32.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1351-5101

MIC26 and MIC27 are bona fide subunits of the MICOS complex in mitochondria and do not exist as glycosylated apolipoproteins.

Authors: Lubeck, Melissa Derkum, Nick H. Naha, Ritam et al.

Source: PLoS ONE. 6/6/2023, Vol. 18 Issue 6, p1-24. 24p.