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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 [Peer Reviewed Journal]

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 [Peer Reviewed Journal]

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 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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4
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 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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5
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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6
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 [Peer Reviewed Journal]

United States: Hindawi Limited

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7
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 [Peer Reviewed Journal]

England: Oxford University Press

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8
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 [Peer Reviewed Journal]

United States: Blackwell Publishing Ltd

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9
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
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Phenotypic spectrum associated with mutations in the fukutin-related protein gene

Mercuri, Eugenio ; Brockington, Martin ; Straub, Volker ; Quijano-Roy, Susana ; Yuva, Yeliz ; Herrmann, Ralf ; Brown, Susan C. ; Torelli, Silvia ; Dubowitz, Victor ; Blake, Derek J. ; Romero, Norma B. ; Estournet, Brigitte ; Sewry, Caroline A. ; Guicheney, Pascale ; Voit, Thomas ; Muntoni, Francesco

Annals of neurology, 2003-04, Vol.53 (4), p.537-542 [Peer Reviewed Journal]

New York: Wiley Subscription Services, Inc., A Wiley Company

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10
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
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Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm

Luce, Leonela N. ; Ottaviani, Daniela ; Ferrer, Marcela ; Szijan, Irene ; Cotignola, Javier ; Giliberto, Florencia

Muscle & nerve, 2014-02, Vol.49 (2), p.249-256 [Peer Reviewed Journal]

United States: Blackwell Publishing Ltd

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