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Select item 104548101.

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 104547332.

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice

Justine Rousseau, Samuel Boris Tene Tadoum, Marisol Lavertu Jolin, Thi Tuyet Mai Nguyen, Norbert Fonya Ajeawung, Ann M. Flenniken, Lauryl M. J. Nutter, Igor Vukobradovic, Elsa Rossignol, Philippe M. Campeau

Genes (Basel) 2023 Aug; 14(8): 1538. Published online 2023 Jul 27. doi: 10.3390/genes14081538

PMCID:: PMC10454733

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Select item 103802693.

Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish

Elena Cannone, Valeria Guglielmi, Giulia Marchetto, Chiara Tobia, Barbara Gnutti, Barbara Cisterna, Paola Tonin, Alessandro Barbon, Gaetano Vattemi, Marco Schiavone

Int J Mol Sci. 2023 Jul; 24(14): 11483. Published online 2023 Jul 14. doi: 10.3390/ijms241411483

PMCID:: PMC10380269

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Select item 103792354.

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

Gemma Marinella, Alessandro Orsini, Massimo Scacciati, Elisa Costa, Andrea Santangelo, Guja Astrea, Silvia Frosini, Rosa Pasquariello, Anna Rubegni, Giada Sgherri, Martina Corsi, Alice Bonuccelli, Roberta Battini

Genes (Basel) 2023 Jul; 14(7): 1363. Published online 2023 Jun 28. doi: 10.3390/genes14071363

PMCID:: PMC10379235

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Select item 103690545.

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Ferruccio Santini, Simonetta Bellone, Simona Mellone, Alessio Baricich, Ivana Rabbone, Gianluca Aimaretti, Baris Akinci, Mara Giordano, Flavia Prodam

Front Endocrinol (Lausanne) 2023; 14: 1212729. Published online 2023 Jul 12. doi: 10.3389/fendo.2023.1212729

PMCID:: PMC10369054

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Select item 102984236.

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review

Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek

Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208

PMCID:: PMC10298423

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Select item 102567887.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

Nat Commun. 2023; 14: 3403. Published online 2023 Jun 9. doi: 10.1038/s41467-023-39040-0

Correction in:: Nat Commun. 2023; 14: 3566.

PMCID:: PMC10256788

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Select item 102429208.

Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

Robert J. Graham, Basil T. Darras, Tmirah Haselkorn, Dan Fisher, Casie A. Genetti, Weston Miller, Alan H. Beggs

Orphanet J Rare Dis. 2023; 18: 138. Published online 2023 Jun 6. doi: 10.1186/s13023-023-02733-2

PMCID:: PMC10242920

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Select item 101708149.

The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressiva

Zhengqin Ye, Siyi Wang, Chang Shan, Qi Zhu, Ying Xue, Keqin Zhang

Orphanet J Rare Dis. 2023; 18: 111. Published online 2023 May 10. doi: 10.1186/s13023-023-02708-3

PMCID:: PMC10170814

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Select item 1005997310.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D’Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga

Int J Mol Sci. 2023 Mar; 24(6): 5551. Published online 2023 Mar 14. doi: 10.3390/ijms24065551

PMCID:: PMC10059973

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Select item 1005141311.

Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents

Olga E. Karpicheva, Stanislava V. Avrova, Andrey L. Bogdanov, Vladimir V. Sirenko, Charles S. Redwood, Yurii S. Borovikov

Int J Mol Sci. 2023 Mar; 24(6): 5829. Published online 2023 Mar 18. doi: 10.3390/ijms24065829

PMCID:: PMC10051413

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Select item 995754412.

Mouse Models of Musculocontractural Ehlers-Danlos Syndrome

Takahiro Yoshizawa, Tomoki Kosho

Genes (Basel) 2023 Feb; 14(2): 436. Published online 2023 Feb 8. doi: 10.3390/genes14020436

PMCID:: PMC9957544

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Select item 995752713.

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia

Genes (Basel) 2023 Feb; 14(2): 484. Published online 2023 Feb 14. doi: 10.3390/genes14020484

PMCID:: PMC9957527

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Select item 995713214.

Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome

Shuji Mizumoto, Shuhei Yamada

Genes (Basel) 2023 Feb; 14(2): 509. Published online 2023 Feb 16. doi: 10.3390/genes14020509

PMCID:: PMC9957132

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Select item 995625315.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders

Pitcha Chompoopong, Margherita Milone

Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372

PMCID:: PMC9956253

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Select item 987699116.

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum

Sarinya Summa, Chupong Ittiwut, Pimchanok Kulsirichawaroj, Tanitnun Paprad, Surachai Likasitwattanakul, Oranee Sanmaneechai, Ponghatai Boonsimma, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Sci Rep. 2023; 13: 1376. Published online 2023 Jan 25. doi: 10.1038/s41598-023-28405-6

PMCID:: PMC9876991

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Select item 986546217.

Assessing the Role of Aquaporin 4 in Skeletal Muscle Function

Tejal Aslesh, Ammar Al-aghbari, Toshifumi Yokota

Int J Mol Sci. 2023 Jan; 24(2): 1489. Published online 2023 Jan 12. doi: 10.3390/ijms24021489

PMCID:: PMC9865462

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Select item 964511918.

Kathryn H. Morelli, Wenhao Jin, Shashank Shathe, Assael A. Madrigal, Krysten L. Jones, Joshua L. Schwartz, Tristan Bridges, Jasmine R. Mueller, Archana Shankar, Isaac A. Chaim, John W. Day, Gene W. Yeo

Sci Transl Med. Author manuscript; available in PMC 2022 Nov 9.

Published in final edited form as: Sci Transl Med. 2022 Jun 29; 14(651): eabn2375. Published online 2022 Jun 29. doi: 10.1126/scitranslmed.abn2375

PMCID:: PMC9645119

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Select item 952411719.

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi

Skelet Muscle. 2022; 12: 23. Published online 2022 Sep 29. doi: 10.1186/s13395-022-00306-8

PMCID:: PMC9524117

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Select item 932280920.

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

Enrico Castroflorio, Ana Joaquina Pérez Berná, Arístides López-Márquez, Carmen Badosa, Pablo Loza-Alvarez, Mónica Roldán, Cecilia Jiménez-Mallebrera

Int J Mol Sci. 2022 Jul; 23(14): 7651. Published online 2022 Jul 11. doi: 10.3390/ijms23147651

PMCID:: PMC9322809

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