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Muscle MRI in inherited neuromuscular disorders: Past, present, and future
Muscle MRI in inherited neuromuscular disorders: Past, present, and future
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Muscle MRI in inherited neuromuscular disorders: Past, present, and future

Mercuri, Eugenio ; Pichiecchio, Anna ; Allsop, Joanna ; Messina, Sonia ; Pane, Marika ; Muntoni, Francesco

Journal of magnetic resonance imaging, 2007-02, Vol.25 (2), p.433-440 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
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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3
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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4
Natural disease history of the D2‐mdx mouse model for Duchenne muscular dystrophy
Natural disease history of the D2‐mdx mouse model for Duchenne muscular dystrophy
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Natural disease history of the D2‐mdx mouse model for Duchenne muscular dystrophy

Putten, Maaike ; Putker, Kayleigh ; Overzier, Maurice ; Adamzek, W. A. ; Pasteuning-Vuhman, Svetlana ; Plomp, Jaap J. ; Aartsma-Rus, Annemieke

The FASEB journal, 2019-07, Vol.33 (7), p.8110-8124 [Periódico revisado por pares]

United States: Federation of American Societies for Experimental Biology

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5
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes
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Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes

Chandrasekhar, Anjana ; Mroczkowski, Henry J. ; Urraca, Nora ; Gross, Andrew ; Bluske, Krista ; Thorpe, Erin ; Hagelstrom, R. Tanner ; Schonberg, Steven A. ; Perry, Denise L. ; Taft, Ryan J. ; Kesari, Akanchha

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63462-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
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Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Tomar, Swati ; Moorthy, Vikaesh ; Sethi, Raman ; Chai, Josiah ; Low, Poh Sim ; Hong, Stacey Tay Kiat ; Lai, Poh San

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.230-244

Hoboken, USA: John Wiley & Sons, Inc

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7
Fibronectin is a serum biomarker for Duchenne muscular dystrophy
Fibronectin is a serum biomarker for Duchenne muscular dystrophy
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Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Cynthia Martin, F. ; Hiller, Monika ; Spitali, Pietro ; Oonk, Stijn ; Dalebout, Hans ; Palmblad, Magnus ; Chaouch, Amina ; Guglieri, Michela ; Straub, Volker ; Lochmüller, Hanns ; Niks, Erik H. ; Verschuuren, Jan J. G. M. ; Aartsma-Rus, Annemieke ; Deelder, André M. ; van der Burgt, Yuri E. M. ; 't Hoen, Peter A. C.

Proteomics. Clinical applications, 2014-04, Vol.8 (3-4), p.269-278 [Periódico revisado por pares]

Germany: Blackwell Publishing Ltd

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8
Mutation update: The spectra of PLEC sequence variants and related plectinopathies
Mutation update: The spectra of PLEC sequence variants and related plectinopathies
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Mutation update: The spectra of PLEC sequence variants and related plectinopathies

Vahidnezhad, Hassan ; Youssefian, Leila ; Harvey, Nailah ; Tavasoli, Ali Reza ; Saeidian, Amir Hossein ; Sotoudeh, Soheila ; Varghaei, Aida ; Mahmoudi, Hamidreza ; Mansouri, Parvin ; Mozafari, Nikoo ; Zargari, Omid ; Zeinali, Sirous ; Uitto, Jouni

Human mutation, 2022-12, Vol.43 (12), p.1706-1731 [Periódico revisado por pares]

United States: Hindawi Limited

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9
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families
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Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

Ahmad, F. ; Shah, K. ; Umair, M. ; Jan, A. ; Irfanullah ; Khan, S. ; Muhammad, D. ; Basit, S. ; Wakil, S. M. ; Ramzan, K. ; Ahmad, W.

Clinical and experimental dermatology, 2018-08, Vol.43 (6), p.752-755 [Periódico revisado por pares]

England: Oxford University Press

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10
Therapeutic advances in muscular dystrophy
Therapeutic advances in muscular dystrophy
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Therapeutic advances in muscular dystrophy

Leung, Doris G. ; Wagner, Kathryn R.

Annals of neurology, 2013-09, Vol.74 (3), p.404-411 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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