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A hospital based epidemiological study of genetically determined muscle disease in south western Norway
A hospital based epidemiological study of genetically determined muscle disease in south western Norway
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A hospital based epidemiological study of genetically determined muscle disease in south western Norway

Husebye, Sylvia Adele ; Rebne, Camilla Bratt ; Stokland, Ann-Elin ; Sanaker, Petter Schandl ; Bindoff, Laurence A.

Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.181-185 [Periódico revisado por pares]

England: Elsevier B.V

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2
Gene therapy for muscular dystrophy: Lessons learned and path forward
Gene therapy for muscular dystrophy: Lessons learned and path forward
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Gene therapy for muscular dystrophy: Lessons learned and path forward

Mendell, Jerry R. ; Rodino-Klapac, Louise ; Sahenk, Zarife ; Malik, Vinod ; Kaspar, Brian K. ; Walker, Christopher M. ; Clark, K. Reed

Neuroscience letters, 2012-10, Vol.527 (2), p.90-99 [Periódico revisado por pares]

Ireland: Elsevier Ireland Ltd

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3
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease

Herman, Isabella ; Lopez, Michael A. ; Marafi, Dana ; Pehlivan, Davut ; Calame, Daniel G. ; Abid, Farida ; Lotze, Timothy E.

Muscle & nerve, 2021-03, Vol.63 (3), p.304-310 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
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Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

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

Brain (London, England : 1878), 2022-04, Vol.145 (2), p.596-606 [Periódico revisado por pares]

England: Oxford University Press

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NOTCH2NLC‐related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy
NOTCH2NLC‐related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy
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NOTCH2NLC‐related oculopharyngodistal myopathy type 3 with cardiomyopathy and nephropathy

Gu, Xinyu ; Yue, Dongyue ; Qiao, Kai ; Huang, Guoqian ; Zhu, Wenhua ; Xi, Jianying ; Zhu, Hui

Muscle & nerve, 2023-05, Vol.67 (5), p.E18-E21 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Identification of muscle-specific microRNAs in serum of muscular dystrophy animal models: promising novel blood-based markers for muscular dystrophy
Identification of muscle-specific microRNAs in serum of muscular dystrophy animal models: promising novel blood-based markers for muscular dystrophy
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Identification of muscle-specific microRNAs in serum of muscular dystrophy animal models: promising novel blood-based markers for muscular dystrophy

Mizuno, Hideya ; Nakamura, Akinori ; Aoki, Yoshitsugu ; Ito, Naoki ; Kishi, Soichiro ; Yamamoto, Kazuhiro ; Sekiguchi, Masayuki ; Takeda, Shin'ichi ; Hashido, Kazuo Pfeffer, Sebastien

PloS one, 2011-03, Vol.6 (3), p.e18388-e18388 [Periódico revisado por pares]

United States: Public Library of Science

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7
Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
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Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Godfrey, Caroline ; Clement, Emma ; Mein, Rachael ; Brockington, Martin ; Smith, Janine ; Talim, Beril ; Straub, Volker ; Robb, Stephanie ; Quinlivan, Ros ; Feng, Lucy ; Jimenez-Mallebrera, Cecilia ; Mercuri, Eugenio ; Manzur, Adnan Y. ; Kinali, Maria ; Torelli, Silvia ; Brown, Susan C. ; Sewry, Caroline A. ; Bushby, Kate ; Topaloglu, Haluk ; North, Kathryn ; Abbs, Stephen ; Muntoni, Francesco

Brain (London, England : 1878), 2007-10, Vol.130 (10), p.2725-2735 [Periódico revisado por pares]

Oxford: Oxford University Press

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8
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

CIRAK, Sebahattin ; REGHAN FOLEY, Aileen ; ROPER, Helen ; LONGMAN, Cheryl ; KORINTHENBERG, Rudolf ; MARROSU, Gianni ; NÜRNBERG, Peter ; MICHELE, Daniel E ; PLAGNOL, Vincent ; HURLES, Matt ; MOORE, Steven A ; SEWRY, Caroline A ; HERRMANN, Ralf ; CAMPBELL, Kevin P ; VOIT, Thomas ; MUNTONI, Francesco ; WILLER, Tobias ; YAU, Shu ; STEVENS, Elizabeth ; TORELLI, Silvia ; BRODD, Lina ; KAMYNINA, Alisa ; VONDRACEK, Petr

Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.269-281 [Periódico revisado por pares]

Oxford: Oxford University Press

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9
Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy
Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy
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Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy

SILVA, Thiago Henrique da ; ANEQUINI, Isabela Pessa ; FÁVERO, Francis Meire ; VOOS, Mariana Callil ; OLIVEIRA, Acary Souza Bulle ; TELLES, Juliana Aparecida Rhein ; CAROMANO, Fátima Aparecida

Arquivos de neuro-psiquiatria, 2020-03, Vol.78 (3), p.143-148 [Periódico revisado por pares]

Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil: Thieme Revinter Publicações Ltda

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10
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration
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Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration

Bakay, Marina ; Wang, Zuyi ; Melcon, Gisela ; Schiltz, Louis ; Xuan, Jianhua ; Zhao, Po ; Sartorelli, Vittorio ; Seo, Jinwook ; Pegoraro, Elena ; Angelini, Corrado ; Shneiderman, Ben ; Escolar, Diana ; Chen, Yi-Wen ; Winokur, Sara T. ; Pachman, Lauren M. ; Fan, Chenguang ; Mandler, Raul ; Nevo, Yoram ; Gordon, Erynn ; Zhu, Yitan ; Dong, Yibin ; Wang, Yue ; Hoffman, Eric P.

Brain (London, England : 1878), 2006-04, Vol.129 (4), p.996-1013 [Periódico revisado por pares]

Oxford: Oxford University Press

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