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Diagnoses of muscular dystrophy in a veterans health system
Diagnoses of muscular dystrophy in a veterans health system
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Diagnoses of muscular dystrophy in a veterans health system

Zingariello, Carla D. ; Mohamed, Yara ; Jorand‐Fletcher, Magali ; Wymer, James ; Kang, Peter B. ; Rasmussen, Sonja A.

Muscle & nerve, 2024-08, Vol.70 (2), p.273-278 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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2
The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next‐generation sequencing
The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next‐generation sequencing
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The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next‐generation sequencing

Skolka, Michael P. ; Milone, Margherita ; Litchy, William J. ; Laughlin, Ruple S. ; Rubin, Devon I. ; Liewluck, Teerin

Muscle & nerve, 2024-08, Vol.70 (2), p.180-186 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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3
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Giardina, Emiliano ; Camaño, Pilar ; Burton‐Jones, Sarah ; Ravenscroft, Gina ; Henning, Franclo ; Magdinier, Frederique ; Stoep, Nienke ; Vliet, Patrick J. ; Bernard, Rafaëlle ; Tomaselli, Pedro J. ; Davis, Mark R. ; Nishino, Ichizo ; Oflazer, Piraye ; Race, Valerie ; Vishnu, Venugopalan Y. ; Williams, Victoria ; Sobreira, Cláudia F. R. ; Maarel, Silvere M. ; Moore, Steve A. ; Voermans, Nicol C. ; Lemmers, Richard J. L. F.

Clinical genetics, 2024-07, Vol.106 (1), p.13-26 [Peer Reviewed Journal]

Oxford, UK: Blackwell Publishing Ltd

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4
Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy
Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy
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Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy

Sugiyama, Masanaka ; Arakawa, Ayumu ; Iwata, Shintaro ; Tao, Kayoko ; Shirakawa, Nami ; Watanabe, Yuko ; Nakajima, Miho ; Yoshida, Akihiko ; Ishigaki, Keiko ; Kawai, Akira ; Ogawa, Chitose

Pediatric blood & cancer, 2024-07, Vol.71 (7), p.e31036-n/a [Peer Reviewed Journal]

United States: Wiley Subscription Services, Inc

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5
Congenital myasthenic syndrome from a MUSK gene mutation
Congenital myasthenic syndrome from a MUSK gene mutation
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Congenital myasthenic syndrome from a MUSK gene mutation

McLean, Antonia ; Wilson, Ian

Practical neurology, 2024-06, Vol.24 (3), p.238-240 [Peer Reviewed Journal]

England: BMJ Publishing Group Ltd

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6
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry
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Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry

Columbres, Rod Carlo Agram ; Luu, Vu ; Nguyen, Minh ; Kimonis, Virginia

Muscle & nerve, 2024-06, Vol.69 (6), p.699-707 [Peer Reviewed Journal]

United States: Wiley Subscription Services, Inc

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7
Duchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review
Duchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review
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Duchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review

Escobar‐Huertas, J. F. ; Vaca‐González, Juan Jairo ; Guevara, Johana María ; Ramirez‐Martinez, Angelica M. ; Trabelsi, Olfa ; Garzón‐Alvarado, D. A.

Cytoskeleton (Hoboken, N.J.), 2024-06, Vol.81 (6-7), p.269-286 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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8
Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants
Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants
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Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants

Loureiro, Bruna Melo Coelho ; de Brito, Mariana Rabelo ; Iwabe, Cristina ; Dertkigil, Sergio San Juan ; França, Jr, Marcondes C

Muscle & nerve, 2024-06, Vol.69 (6), p.682-690 [Peer Reviewed Journal]

United States: Wiley Subscription Services, Inc

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9
First‐trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP‐based amplicon sequencing: An earlier, rapid and safer way
First‐trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP‐based amplicon sequencing: An earlier, rapid and safer way
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First‐trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP‐based amplicon sequencing: An earlier, rapid and safer way

Fu, Xinyu ; Zhao, Zhenhua ; Kong, Lingrong ; Li, Shaojun ; Li, Feifei ; Han, Xiujuan ; Sun, Luming ; Wu, Di ; Wang, Yanan ; Kong, Xiangdong

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63560-n/a [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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10
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort
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Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort

Sönmezler, Ece ; Stuani, Cristiana ; Hız Kurul, Semra ; Güngör, Serdal ; Buratti, Emanuele ; Oktay, Yavuz Andresen, Brage ; Brage Andresen

Human mutation, 2024-05, Vol.2024, p.1-17 [Peer Reviewed Journal]

Hoboken: Wiley

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