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Items: 1 to 20 of 316

1.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network , Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann
Ann Clin Transl Neurol. 2024 Mar; 11(3): 629–640. Published online 2024 Feb 4. doi: 10.1002/acn3.51983
PMCID:
PMC10963296
ArticlePDF–6.8M
2.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G.W. Lidov, Andrew L. Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito
Acta Neuropathol. Author manuscript; available in PMC 2024 Apr 1.
Published in final edited form as: Acta Neuropathol. 2023 Apr; 145(4): 479–496. Published online 2023 Feb 17. doi: 10.1007/s00401-023-02551-7
PMCID:
PMC10923638
ArticlePDF–2.4M
3.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Maike F. Dohrn, Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A. Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J. Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C. Danzi, Matthis Synofzik, Carsten G. Bönnemann, A. Nazli Başak, Thorsten Hornemann, Stephan Züchner
J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2024 Mar 8.
Published in final edited form as: J Neurol Neurosurg Psychiatry. 2024 Feb 14; 95(3): 201–205. Published online 2024 Feb 14. doi: 10.1136/jnnp-2023-332130
PMCID:
PMC10922288
ArticlePDF–848K
4.
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
Cells. 2024 Feb; 13(4): 329. Published online 2024 Feb 10. doi: 10.3390/cells13040329
PMCID:
PMC10886967
ArticlePDF–26M
5.
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri
Acta Myol. 2023; 42(4): 106–112. Published online 2023 Dec 31. doi: 10.36185/2532-1900-391
PMCID:
PMC10883327
ArticlePDF–1.3M
6.
Investigation into Cardiac Myhc-α 334–352-Specific TCR Transgenic Mice Reveals a Role for Cytotoxic CD4 T Cells in the Development of Cardiac Autoimmunity
Meghna Sur, Mahima T. Rasquinha, Kiruthiga Mone, Chandirasegaran Massilamany, Ninaad Lasrado, Channabasavaiah Gurumurthy, Raymond A. Sobel, Jay Reddy
Cells. 2024 Feb; 13(3): 234. Published online 2024 Jan 26. doi: 10.3390/cells13030234
PMCID:
PMC10854502
ArticlePDF–11M
7.
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
Felix Kleefeld, Rita Horvath, Iago Pinal-Fernandez, Andrew L. Mammen, Maria Casal-Dominguez, Denisa Hathazi, Sarah Melchert, Katrin Hahn, Albert Sickmann, Claudia Muselmann-Genschow, Andreas Hentschel, Corinna Preuße, Andreas Roos, Benedikt Schoser, Werner Stenzel
Acta Neuropathol. 2024; 147(1): 19. Published online 2024 Jan 19. doi: 10.1007/s00401-023-02673-y
PMCID:
PMC10799095
ArticlePDF–2.3M
8.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
Julian Theuriet, Gorka Fernandez-Eulate, Philippe Latour, Tanya Stojkovic, Marion Masingue, Léo Vidoni, Emilien Bernard, Arnaud Jacquier, Laurent Schaeffer, Emmanuelle Salort-Campana, Jean-Baptiste Chanson, Aleksandra Nadaj Pakleza, Anne-Laure Kaminsky, Juliette Svahn, Véronique Manel, Françoise Bouhour, Antoine Pegat
Eur J Hum Genet. 2024 Jan; 32(1): 37–43. Published online 2023 Jun 19. doi: 10.1038/s41431-023-01407-8
PMCID:
PMC10772122
ArticlePDF–546K
9.
Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy
Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin
Physiol Rep. 2023 Dec; 11(24): e15887. Published online 2023 Dec 18. doi: 10.14814/phy2.15887
PMCID:
PMC10727958
ArticlePDF–3.6M
10.
Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report
Jiayi Li, Shuangzhu Lin, Qiong Wu, Jinhua Feng, Qiandui Chen, Kai Jiang
Medicine (Baltimore) 2023 Dec 8; 102(49): e36398. Published online 2023 Dec 8. doi: 10.1097/MD.0000000000036398
PMCID:
PMC10713163
ArticlePDF–508K
11.
WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy
Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti
Ann Clin Transl Neurol. 2023 Nov; 10(11): 1972–1984. Published online 2023 Aug 25. doi: 10.1002/acn3.51884
PMCID:
PMC10647004
ArticlePDF–1.4M
12.
Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient
Koichi Miyashita, Yuichiro Ii, Hirofumi Matsuyama, Atsushi Niwa, Yosuke Kawana, Soshi Shibata, Narihiro Minami, Ichizo Nishino, Hidekazu Tomimoto
Intern Med. 2023 Oct 15; 62(20): 3027–3031. Published online 2023 Feb 15. doi: 10.2169/internalmedicine.0425-22
PMCID:
PMC10641181
ArticlePDF–591K
13.
Transgenic Mice Expressing Functional TCRs Specific to Cardiac Myhc-α 334–352 on Both CD4 and CD8 T Cells Are Resistant to the Development of Myocarditis on C57BL/6 Genetic Background
Meghna Sur, Mahima T. Rasquinha, Rajkumar Arumugam, Chandirasegaran Massilamany, Arunkumar Gangaplara, Kiruthiga Mone, Ninaad Lasrado, Bharathi Yalaka, Aakash Doiphode, Channabasavaiah Gurumurthy, David Steffen, Jay Reddy
Cells. 2023 Oct; 12(19): 2346. Published online 2023 Sep 25. doi: 10.3390/cells12192346
PMCID:
PMC10571761
ArticlePDF–4.2M
14.
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
Niloofar Naderi, Neda Mohsen-Pour, Yalda Nilipour, Maryam Pourirahim, Majid Maleki, Samira Kalayinia
BMC Cardiovasc Disord. 2023; 23: 487. Published online 2023 Oct 4. doi: 10.1186/s12872-023-03538-8
PMCID:
PMC10552240
ArticlePDF–2.2M
15.
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Maike Tomforde, Meike Steinbach, Tobias B. Haack, Gregor Kuhlenbäumer
Neurogenetics. 2023; 24(4): 273–278. Published online 2023 Aug 17. doi: 10.1007/s10048-023-00728-6
PMCID:
PMC10545561
ArticlePDF–630K
16.
Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene
Héctor Hugo Manzanilla-Romero, Elisabeth Schermer, Agnes Mayr, Sabine Rudnik-Schöneborn
Eur J Pediatr. 2023; 182(8): 3785–3788. Published online 2023 Jun 3. doi: 10.1007/s00431-023-05034-9
PMCID:
PMC10460352
ArticlePDF–763K
17.
Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder
Sivan Lewis, Amy Woroch, Mary Kate Hatch, Reymundo Lozano
Genes (Basel) 2023 Aug; 14(8): 1587. Published online 2023 Aug 5. doi: 10.3390/genes14081587
PMCID:
PMC10454313
ArticlePDF–693K
18.
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
Jingzhe HAN, Shan LU, Xueqin SONG, Guang JI, Yanan XIE, Hongran WU
Turk J Med Sci. 2022; 52(4): 1256–1265. Published online 2022 May 12. doi: 10.55730/1300-0144.5431
PMCID:
PMC10388001
ArticlePDF–907K
19.
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)
Dipti Baskar, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Kosha Srivastava, Sai Bhargava Sanka, Kiran Polavarapu, Deepak Menon, Veeramani Preethish-Kumar, Hansashree Padmanabha, Gautham Arunachal, Atchayaram Nalini
J Neuromuscul Dis. 2023; 10(4): 727–730. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-230017
PMCID:
PMC10357141
ArticlePDF–427K
20.
Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population
Yuexin Hu, Liangli Jin, Zhi Wang
BMC Cardiovasc Disord. 2023; 23: 335. Published online 2023 Jun 30. doi: 10.1186/s12872-023-03370-0
PMCID:
PMC10314512
ArticlePDF–2.0M

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