skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: Base de dados/Biblioteca: Academic Search Premier remover Base de dados/Biblioteca: Wiley Online Library remover
Result Number Material Type Add to My Shelf Action Record Details and Options
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
2
rAAV6-Microdystrophin Rescues Aberrant Golgi Complex Organization in mdx Skeletal Muscles
rAAV6-Microdystrophin Rescues Aberrant Golgi Complex Organization in mdx Skeletal Muscles
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
3
Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies
Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies
Material Type:
Artigo 		Adicionar ao Meu Espaço

Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies

Gibbs, Elizabeth M. ; Horstick, Eric J. ; Dowling, James J.

The FEBS journal, 2013-09, Vol.280 (17), p.4187-4197 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
4
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
5
3D structural analysis of protein O‐mannosyl kinase, POMK, a causative gene product of dystroglycanopathy
3D structural analysis of protein O‐mannosyl kinase, POMK, a causative gene product of dystroglycanopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

3D structural analysis of protein O‐mannosyl kinase, POMK, a causative gene product of dystroglycanopathy

Nagae, Masamichi ; Mishra, Sushil K. ; Neyazaki, Makiko ; Oi, Rika ; Ikeda, Akemi ; Matsugaki, Naohiro ; Akashi, Satoko ; Manya, Hiroshi ; Mizuno, Mamoru ; Yagi, Hirokazu ; Kato, Koichi ; Senda, Toshiya ; Endo, Tamao ; Nogi, Terukazu ; Yamaguchi, Yoshiki

Genes to cells : devoted to molecular & cellular mechanisms, 2017-04, Vol.22 (4), p.348-359 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
6
Aging affects the in vivo regenerative potential of human mesoangioblasts
Aging affects the in vivo regenerative potential of human mesoangioblasts
Material Type:
Artigo 		Adicionar ao Meu Espaço

Aging affects the in vivo regenerative potential of human mesoangioblasts

Rotini, Alessio ; Martínez‐Sarrà, Ester ; Duelen, Robin ; Costamagna, Domiziana ; Di Filippo, Ester Sara ; Giacomazzi, Giorgia ; Grosemans, Hanne ; Fulle, Stefania ; Sampaolesi, Maurilio

Aging cell, 2018-04, Vol.17 (2), p.n/a [Periódico revisado por pares]

England: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
7
The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene
The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene

Hoffman, Eric P.

The FEBS journal, 2020-09, Vol.287 (18), p.3879-3887 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
8
Aberrant O‐GlcNAcylation disrupts GNE enzyme activity in GNE myopathy
Aberrant O‐GlcNAcylation disrupts GNE enzyme activity in GNE myopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Aberrant O‐GlcNAcylation disrupts GNE enzyme activity in GNE myopathy

Bennmann, Dorit ; Weidemann, Wenke ; Thate, Annett ; Kreuzmann, Denise ; Horstkorte, Rüdiger

The FEBS journal, 2016-06, Vol.283 (12), p.2285-2294 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
9
A novel mutation in the PDZ‐like motif of ZASP causes distal ZASP‐related myofibrillar myopathy
A novel mutation in the PDZ‐like motif of ZASP causes distal ZASP‐related myofibrillar myopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel mutation in the PDZ‐like motif of ZASP causes distal ZASP‐related myofibrillar myopathy

Zheng, Junjun ; Chen, Shuyun ; Chen, Yunqing ; Zhu, Min ; Hong, Daojun

Neuropathology, 2017-02, Vol.37 (1), p.45-51 [Periódico revisado por pares]

Australia: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
10
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy

Çavdarlı, Büşranur ; Köken, Özlem Yayici ; Satılmış, Saide Betül Arslan ; Bilen, Şule ; Ardıçlı, Didem ; Ceylan, Ahmet Cevdet ; Gündüz, Cavidan Nur Semerci ; Topaloğlu, Haluk

Annals of human genetics, 2023-05, Vol.87 (3), p.104-114 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (204)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (207)
  2. magazinearticle  (24)
  3. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1979  (12)
  2. 1979Até1991  (20)
  3. 1992Até2001  (48)
  4. 2002Até2012  (76)
  5. Após 2012  (76)
  6. Mais opções open sub menu

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.