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Select item 99562531.

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 98965942.

The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy

Eleonora Diella, Antonella LoMauro, Morena Delle Fave, Rossella Cima, Maria Grazie D’Angelo

Acta Myol. 2022; 41(4): 207–211. Published online 2022 Dec 31. doi: 10.36185/2532-1900-084

PMCID:: PMC9896594

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Select item 98085603.

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy

Megan E. Forrest, Alayne P. Meyer, Stephanie M. Laureano Figueroa, Anthony Antonellis

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006246. doi: 10.1101/mcs.a006246

PMCID:: PMC9808560

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Select item 97776984.

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report

Antoine Pegat, Nathalie Streichenberger, Nicolas Lacoste, Marc Hermier, Rita Menassa, Laurent Coudert, Julian Theuriet, Roseline Froissart, Sophie Terrone, Francoise Bouhour, Laurence Michel-Calemard, Laurent Schaeffer, Arnaud Jacquier

Genes (Basel) 2022 Dec; 13(12): 2245. Published online 2022 Nov 29. doi: 10.3390/genes13122245

PMCID:: PMC9777698

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Select item 96924965.

Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case

Bruno Lamanna, Marina Vinciguerra, Miriam Dellino, Gabriele Cascella, Gerardo Cazzato, Enrica Macorano, Antonio Malvasi, Salvatore Scacco, Ettore Cicinelli, Vera Loizzi, Antonella Vimercati, Gennaro Cormio, Francesco Paduano, Eliano Cascardi, Marco Tatullo

Int J Mol Sci. 2022 Nov; 23(22): 14408. Published online 2022 Nov 19. doi: 10.3390/ijms232214408

PMCID:: PMC9692496

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Select item 90147516.

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

Jorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J Vílchez, Mario Emilio Dourado, Naz Kadem, Gultekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O Crawford, Xavier Suárez-Calvet, Ana Töpf, Michela Guglieri, Chiara Marini-Bettolo, Pia Gallano, Volker Straub, Jordi Díaz-Manera

Brain. 2022 Feb; 145(2): 596–606. Published online 2021 Sep 13. doi: 10.1093/brain/awab301

PMCID:: PMC9014751

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Select item 86153247.

A pediatric case report and literature review of facioscapulohumeral muscular dystrophy type1

Ting Xiao, Haiyan Yang, Siyi Gan, Liwen Wu

Medicine (Baltimore) 2021 Nov 24; 100(47): e27907. Published online 2021 Nov 24. doi: 10.1097/MD.0000000000027907

PMCID:: PMC8615324

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Select item 82565128.

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

Yo-suke Nishii, Yu-ichi Noto, Rei Yasuda, Takamasa Kitaoji, Shinji Ashida, Eijirou Tanaka, Narihiro Minami, Ichizo Nishino, Toshiki Mizuno

BMC Neurol. 2021; 21: 265. Published online 2021 Jul 5. doi: 10.1186/s12883-021-02300-x

PMCID:: PMC8256512

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Select item 74667879.

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

Xuelin Feng, Jinlang Wu, Wenbiao Xian, Bing Liao, Songjie Liao, Xiaoli Yao, Weixi Zhang

BMC Musculoskelet Disord. 2020; 21: 588. Published online 2020 Sep 1. doi: 10.1186/s12891-020-03616-4

PMCID:: PMC7466787

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Select item 681253810.

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Teerin Liewluck, Zhiyv Niu, Steven A. Moore, Mohammad Alsharabati, Margherita Milone

Neuromuscul Disord. Author manuscript; available in PMC 2019 Oct 24.

Published in final edited form as: Neuromuscul Disord. 2019 May; 29(5): 388–391. Published online 2019 Mar 2. doi: 10.1016/j.nmd.2019.02.012

PMCID:: PMC6812538

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Select item 637335211.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Markus T. Sainio, Salla Välipakka, Bruno Rinaldi, Helena Lapatto, Anders Paetau, Simo Ojanen, Virginia Brilhante, Manu Jokela, Sanna Huovinen, Mari Auranen, Johanna Palmio, Sylvie Friant, Emil Ylikallio, Bjarne Udd, Henna Tyynismaa

J Neurol. 2019; 266(2): 353–360. Published online 2018 Dec 4. doi: 10.1007/s00415-018-9137-8

PMCID:: PMC6373352

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Select item 630221912.

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Pedro J. Tomaselli, Alejandro Horga, Alexander M. Rossor, Zane Jaunmuktane, Andrea Cortese, Julian C. Blake, Natalia Zarate-Lopez, Henry Houlden, Mary M. Reilly

Neuromuscul Disord. 2018 Dec; 28(12): 1012–1015. doi: 10.1016/j.nmd.2018.08.010

PMCID:: PMC6302219

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Select item 599554513.

X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

Camila Nascimento Alves, Tiago Kiyoshi Kitabayashi Braga, Danusa Neves Somensi, Bruno Sérgio Vilhena do Nascimento, José Antônio Santos de Lima, Satomi Fujihara

Einstein (Sao Paulo) 2018; 16(2): eRC4011. Published online 2018 May 25. doi: 10.1590/S1679-45082018RC4011

PMCID:: PMC5995545

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Select item 598559314.

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family

Jing Miao, Fei-fei Su, Xue-mei Liu, Xiao-jing Wei, Yun Yuan, Xue-fan Yu

BMC Neurol. 2018; 18: 79. Published online 2018 Jun 4. doi: 10.1186/s12883-018-1078-4

PMCID:: PMC5985593

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Select item 595322815.

Bethlem myopathy in a Portuguese patient – case report

ANA INÊS MARTINS, CRISTIN MAARQUE, JORGE PINTO-BASTO, LUIS NEGRÃO

Acta Myol. 2017 Sep; 36(3): 178–181. Published online 2017 Sep 1.

PMCID:: PMC5953228

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Select item 573590016.

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao

Orphanet J Rare Dis. 2017; 12: 182. Published online 2017 Dec 19. doi: 10.1186/s13023-017-0732-z

PMCID:: PMC5735900

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Select item 570256717.

RYR1 causing distal myopathy

Ruple S. Laughlin, Zhiyv Niu, Eric Wieben, Margherita Milone

Mol Genet Genomic Med. 2017 Nov; 5(6): 800–804. Published online 2017 Oct 4. doi: 10.1002/mgg3.338

PMCID:: PMC5702567

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Select item 441266818.

Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1

Kazuma Sugie, Miho Sugie, Toshio Taoka, Yasuyo Tonomura, Aya Kumazawa, Tesseki Izumi, Kimihiko Kichikawa, Satoshi Ueno

PLoS One. 2015; 10(4): e0125051. Published online 2015 Apr 28. doi: 10.1371/journal.pone.0125051

PMCID:: PMC4412668

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Select item 430682219.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Alexander M. Rossor, Emily C. Oates, Hannah K. Salter, Yang Liu, Sinead M. Murphy, Rebecca Schule, Michael A. Gonzalez, Mariacristina Scoto, Rahul Phadke, Caroline A. Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Zuchner, David N. Herrmann, Julian Blake, Janet E. Sowden, Gyuda Acsadi, Michael L. Rodriguez, Manoj P. Menezes, Nigel F. Clarke, Michaela Auer Grumbach, Simon L. Bullock, Francesco Muntoni, Mary M. Reilly, Kathryn N. North

Brain. 2015 Feb; 138(2): 293–310. Published online 2014 Dec 14. doi: 10.1093/brain/awu356

PMCID:: PMC4306822

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Select item 425985120.

Atypical presentation of GNE myopathy with asymmetric hand weakness

John Karl L. de Dios, Joseph A. Shrader, Galen O. Joe, Jeffrey C. McClean, Kayla Williams, Robert Evers, May Christine V. Malicdan, Carla Ciccone, Ami Mankodi, Marjan Huizing, John C. McKew, David A. Bluemke, William A. Gahl, Nuria Carrillo-Carrasco

Neuromuscul Disord. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2014 Dec; 24(12): 1063–1067. Published online 2014 Aug 7. doi: 10.1016/j.nmd.2014.07.006

PMCID:: PMC4259851

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