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1
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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2
Histological and biochemical outcomes of cardiac pathology in mdx mice with dietary quercetin enrichment
Histological and biochemical outcomes of cardiac pathology in mdx mice with dietary quercetin enrichment
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Histological and biochemical outcomes of cardiac pathology in mdx mice with dietary quercetin enrichment

Ballmann, Christopher ; Hollinger, Katrin ; Selsby, Joshua T ; Amin, Rajesh ; Quindry, John C

Experimental physiology, 2015-01, Vol.100 (1), p.12 [Periódico revisado por pares]

England

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3
Ageing and muscular dystrophy differentially affect murine pharyngeal muscles in a region‐dependent manner
Ageing and muscular dystrophy differentially affect murine pharyngeal muscles in a region‐dependent manner
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Ageing and muscular dystrophy differentially affect murine pharyngeal muscles in a region‐dependent manner

Randolph, Matthew E. ; Luo, Qingwei ; Ho, Justin ; Vest, Katherine E. ; Sokoloff, Alan J. ; Pavlath, Grace K.

The Journal of physiology, 2014-12, Vol.592 (23), p.5301-5315 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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4
PGC‐1α gene transfer improves muscle function in dystrophic muscle following prolonged disease progress
PGC‐1α gene transfer improves muscle function in dystrophic muscle following prolonged disease progress
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PGC‐1α gene transfer improves muscle function in dystrophic muscle following prolonged disease progress

Hollinger, Katrin ; Selsby, Joshua T.

Experimental physiology, 2015-10, Vol.100 (10), p.1145-1158 [Periódico revisado por pares]

England

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5
Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB
Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB
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Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB

Gong, Zhuoqing ; Chen, Kai ; Xu, Zhe ; Yang, Zhou ; Wang, Huijun ; Lin, Zhimiao

Journal of the European Academy of Dermatology and Venereology, 2024-04, Vol.38 (4), p.e323-e325 [Periódico revisado por pares]

England

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6
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients
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Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients

Song, Danyu ; Dai, Yi ; Chen, Xiaoyu ; Fu, Xiaona ; Chang, Xingzhi ; Wang, Ning ; Zhang, Cheng ; Yan, Chuanzhu ; Zheng, Hong ; Wu, Liwen ; Jiang, Li ; Hua, Ying ; Yang, Haipo ; Wang, Zhiqiang ; Dai, Tingjun ; Zhu, Wenhua ; Han, Chunxi ; Yuan, Yun ; Kobayashi, Kazuhiro ; Toda, Tatsushi ; Xiong, Hui

Clinical genetics, 2021-03, Vol.99 (3), p.384-395 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
rAAV6-Microdystrophin Rescues Aberrant Golgi Complex Organization in mdx Skeletal Muscles
rAAV6-Microdystrophin Rescues Aberrant Golgi Complex Organization in mdx Skeletal Muscles
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rAAV6-Microdystrophin Rescues Aberrant Golgi Complex Organization in mdx Skeletal Muscles

Percival, Justin M ; Gregorevic, Paul ; Odom, Guy L ; Banks, Glen B ; Chamberlain, Jeffrey S ; Froehner, Stanley C

Traffic (Copenhagen, Denmark), 2007-10, Vol.8 (10), p.1424-1439 [Periódico revisado por pares]

Oxford, UK: Oxford, UK : Blackwell Publishing Ltd

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8
Impaired muscle spindle function in murine models of muscular dystrophy
Impaired muscle spindle function in murine models of muscular dystrophy
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Impaired muscle spindle function in murine models of muscular dystrophy

Gerwin, Laura ; Rossmanith, Sarah ; Haupt, Corinna ; Schultheiß, Jürgen ; Brinkmeier, Heinrich ; Bittner, Reginald E. ; Kröger, Stephan

The Journal of physiology, 2020-04, Vol.598 (8), p.1591-1609 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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9
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
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Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Stehlíková, K. ; Skálová, D. ; Zídková, J. ; Haberlová, J. ; Voháňka, S. ; Mazanec, R. ; Mrázová, L. ; Vondráček, P. ; Ošlejšková, H. ; Zámečník, J. ; Honzík, T. ; Zeman, J. ; Magner, M. ; Šišková, D. ; Langová, M. ; Gregor, V. ; Godava, M. ; Smolka, V. ; Fajkusová, L.

Clinical genetics, 2017-03, Vol.91 (3), p.463-469 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain
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TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain

Munot, Pinki ; McCrea, Nadine ; Torelli, Silvia ; Manzur, Adnan ; Sewry, Caroline ; Chambers, Darren ; Feng, Lucy ; Ala, Pierpaolo ; Zaharieva, Irina ; Ragge, Nicola ; Roper, Helen ; Marton, Tamas ; Cox, Phil ; Milev, Miroslav P. ; Liang, Wen‐Chen ; Maruyama, Shinsuke ; Nishino, Ichizo ; Sacher, Michael ; Phadke, Rahul ; Muntoni, Francesco

Neuropathology and applied neurobiology, 2022-02, Vol.48 (2), p.e12771-n/a [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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