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Select item 42061551.

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Pushpa Narayanaswami, Michael Weiss, Duygu Selcen, William David, Elizabeth Raynor, Gregory Carter, Matthew Wicklund, Richard J. Barohn, Erik Ensrud, Robert C. Griggs, Gary Gronseth, Anthony A. Amato

Neurology. 2014 Oct 14; 83(16): 1453–1463. doi: 10.1212/WNL.0000000000000892

PMCID:: PMC4206155

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Select item 106470062.

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde

Ann Clin Transl Neurol. 2023 Nov; 10(11): 2092–2104. Published online 2023 Sep 8. doi: 10.1002/acn3.51896

PMCID:: PMC10647006

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Select item 106318573.

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review

Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Nyvia Milicio Coblinski Hrysay, Raquel Cristina Arndt, Lineu Cesar Werneck, Rosana Herminia Scola

Arq Neuropsiquiatr. 2023 Oct; 81(10): 922–933. Published online 2023 Oct 18. doi: 10.1055/s-0043-1772833

PMCID:: PMC10631857

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Select item 106248324.

DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones

Meital Abayev-Avraham, Yehuda Salzberg, Dar Gliksberg, Meital Oren-Suissa, Rina Rosenzweig

Nat Commun. 2023; 14: 7066. Published online 2023 Nov 3. doi: 10.1038/s41467-023-42735-z

PMCID:: PMC10624832

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Select item 106049615.

CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy

Marine Geoffroy, Louna Pili, Valentina Buffa, Maëlle Caroff, Anne Bigot, Evelyne Gicquel, Grégory Rouby, Isabelle Richard, Romain Fragnoud

Cells. 2023 Oct; 12(20): 2444. Published online 2023 Oct 12. doi: 10.3390/cells12202444

PMCID:: PMC10604961

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Select item 105794796.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Maria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Juliá-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernández-Laín, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-Candela, Margarita del Carmen Castro, Alberto de la Osa-Langreo, Alfonso Peña-Valenceja, Elena Marcos-Vadillo, Pablo Prieto-Matos, Samuel Ignacio Pascual-Pascual, Adolfo López de Munain, Ana Camacho, Berta Estevez-Arias, Uliana Musokhranova, Mireia Olivella, Alfonso Oyarzábal, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Andrés Nascimento, Àngels García-Cazorla, Daniel Natera-de Benito

J Med Genet. 2023 Oct; 60(10): 965–973. Published online 2023 May 16. doi: 10.1136/jmg-2022-109132

PMCID:: PMC10579479

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Select item 105659777.

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz

Orphanet J Rare Dis. 2023; 18: 315. Published online 2023 Oct 10. doi: 10.1186/s13023-023-02873-5

PMCID:: PMC10565977

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Select item 105455618.

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

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Select item 105237159.

TCAP gene is not a common cause of cardiomyopathy in Iranian patients

Zahra Alaei, Nasrin Zamani, Bahareh Rabbani, Nejat Mahdieh

Eur J Med Res. 2023; 28: 376. Published online 2023 Sep 26. doi: 10.1186/s40001-023-01019-4

PMCID:: PMC10523715

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Select item 1049750210.

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

Shamita Sanga, Sudipta Chakraborty, Mainak Bardhan, Kiran Polavarapu, Veeramani Preethish Kumar, Chandrika Bhattacharya, Saraswati Nashi, Seena Vengalil, Thenral S. Geetha, Vedam Ramprasad, Atchayaram Nalini, Analabha Basu, Moulinath Acharya

Sci Rep. 2023; 13: 15095. Published online 2023 Sep 12. doi: 10.1038/s41598-023-41487-6

PMCID:: PMC10497502

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Select item 1048809411.

Dual Adeno-Associated Virus 9 with Codon-Optimized DYSF Gene Promotes In Vivo Muscle Regeneration and May Decrease Inflammatory Response in Limb Girdle Muscular Dystrophy Type R2

Ivan A. Yakovlev, Aleksei M. Emelin, Yana S. Slesarenko, Igor S. Limaev, Iuliia A. Vetrova, Liliya D. Belikova, Ekaterina N. Grafskaia, Pavel A. Bobrovsky, Mikhail V. Pokrovsky, Elena V. Kuzubova, Vladimir M. Pokrovsky, Pyotr A. Lebedev, Sergei N. Bardakov, Artur A. Isaev, Roman V. Deev

Int J Mol Sci. 2023 Sep; 24(17): 13551. Published online 2023 Aug 31. doi: 10.3390/ijms241713551

PMCID:: PMC10488094

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Select item 1045481012.

Current Classification of Canine Muscular Dystrophies and Identification of New Variants

G. Diane Shelton, Katie M. Minor, Steven G. Friedenberg, Jonah N. Cullen, Ling T. Guo, James R. Mickelson

Genes (Basel) 2023 Aug; 14(8): 1557. Published online 2023 Jul 29. doi: 10.3390/genes14081557

PMCID:: PMC10454810

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Select item 1045457013.

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy

Barbara Brunetti, Barbara Bacci, Jessica Maria Abbate, Giorgia Tura, Orlando Paciello, Emanuela Vaccaro, Francesco Prisco, Gualtiero Gandini, Samuel Okonji, Andrea di Paola, Anna Letko, Cord Drögemüller, Vidhya Jagannathan, Maria Elena Turba, Tolulope Grace Ogundipe, Luca Lorenzini, Marco Rosati, Dimitra Psalla, Tosso Leeb, Michaela Drögemüller

Genes (Basel) 2023 Aug; 14(8): 1641. Published online 2023 Aug 18. doi: 10.3390/genes14081641

PMCID:: PMC10454570

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Select item 1045444014.

Modeling Sarcoglycanopathy in Danio rerio

Francesco Dalla Barba, Michela Soardi, Leila Mouhib, Giovanni Risato, Eylem Emek Akyürek, Tyrone Lucon-Xiccato, Martina Scano, Alberto Benetollo, Roberta Sacchetto, Isabelle Richard, Francesco Argenton, Cristiano Bertolucci, Marcello Carotti, Dorianna Sandonà

Int J Mol Sci. 2023 Aug; 24(16): 12707. Published online 2023 Aug 11. doi: 10.3390/ijms241612707

PMCID:: PMC10454440

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Select item 1045431315.

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

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Select item 1045367416.

Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?

Seung Yeon Jeong, Jun Hee Choi, Jooho Kim, Jin Seok Woo, Eun Hui Lee

Cells. 2023 Aug; 12(16): 2104. Published online 2023 Aug 19. doi: 10.3390/cells12162104

PMCID:: PMC10453674

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Select item 1035714217.

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan, Saraswati Nashi, Seena Vengalil, Veeramani Preethish-Kumar, Ravi Kiran Valasani, Akshata Huddar, Vikas Nishadham, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini

J Neuromuscul Dis. 2023; 10(4): 615–626. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-221618

PMCID:: PMC10357142

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Select item 1026678418.

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

Chengcheng Li, Jackson Wilborn, Sara Pittman, Jil Daw, Jorge Alonso-Pérez, Jordi Díaz-Manera, Conrad C. Weihl, Gabe Haller

J Clin Invest. 2023 Jun 15; 133(12): e168156. Published online 2023 Jun 15. doi: 10.1172/JCI168156

PMCID:: PMC10266784

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Select item 1026498719.

分子伴侣HSP40/DNAJ蛋白家族及其在神经退行性疾病中的作用

Yinghui HE, Zhiping WANG

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Oct; 51(5): 640–646. Chinese. Published online 2022 Nov 29. doi: 10.3724/zdxbyxb-2021-0406

PMCID:: PMC10264987

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Select item 1025379820.

The Role of P2X7 Purinoceptors in the Pathogenesis and Treatment of Muscular Dystrophies

Krzysztof Zabłocki, Dariusz C. Górecki

Int J Mol Sci. 2023 Jun; 24(11): 9434. Published online 2023 May 29. doi: 10.3390/ijms24119434

PMCID:: PMC10253798

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