skip to main content
Idioma:
Mostrar Somente
Refinado por: Base de dados/Biblioteca: PubMed (Medline) remover Base de dados/Biblioteca: Publisher website remover
Result Number Material Type Add to My Shelf Action Record Details and Options
11
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
Material Type:
Artigo 		Adicionar ao Meu Espaço

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Mendoza-Ferreira, Natalia ; Karakaya, Mert ; Cengiz, Nur ; Beijer, Danique ; Brigatti, Karlla W. ; Gonzaga-Jauregui, Claudia ; Fuhrmann, Nico ; Hölker, Irmgard ; Thelen, Maximilian P. ; Zetzsche, Sebastian ; Rombo, Roman ; Puffenberger, Erik G. ; De Jonghe, Peter ; Deconinck, Tine ; Zuchner, Stephan ; Strauss, Kevin A. ; Carson, Vincent ; Schrank, Bertold ; Wunderlich, Gilbert ; Baets, Jonathan ; Wirth, Brunhilde

American journal of human genetics, 2020-10, Vol.107 (4), p.763-777 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
12
Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy
Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy

Cottam, Nicholas C. ; Bamfo, Tiffany ; Harrington, Melissa A. ; Charvet, Christine J. ; Hekmatyar, Khan ; Tulin, Nikita ; Sun, Jianli

Brain pathology (Zurich, Switzerland), 2023-09, Vol.33 (5), p.e13162-n/a [Periódico revisado por pares]

Switzerland: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
13
Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy
Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy

Hennlein, Luisa ; Ghanawi, Hanaa ; Gerstner, Florian ; Palominos García, Eduardo ; Yildirim, Ezgi ; Saal-Bauernschubert, Lena ; Moradi, Mehri ; Deng, Chunchu ; Klein, Teresa ; Appenzeller, Silke ; Sauer, Markus ; Briese, Michael ; Simon, Christian ; Sendtner, Michael ; Jablonka, Sibylle

The Journal of cell biology, 2023-03, Vol.222 (3), p.1 [Periódico revisado por pares]

United States: Rockefeller University Press

Texto completo disponível

Citações Citado por
14
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
Material Type:
Artigo 		Adicionar ao Meu Espaço

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

Cho, Sungchan ; Dreyfuss, Gideon

Genes & development, 2010-03, Vol.24 (5), p.438-442 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

Texto completo disponível

Citações Citado por
15
LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy
LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy

Nichterwitz, Susanne ; Nijssen, Jik ; Storvall, Helena ; Schweingruber, Christoph ; Comley, Laura Helen ; Allodi, Ilary ; Lee, Mirjam van der ; Deng, Qiaolin ; Sandberg, Rickard ; Hedlund, Eva

Genome research, 2020-08, Vol.30 (8), p.1083-1096 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

Texto completo disponível

Citações Citado por
16
Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization
Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization
Material Type:
Artigo 		Adicionar ao Meu Espaço

Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization

Pagliarini, Vittoria ; Jolly, Ariane ; Bielli, Pamela ; Di Rosa, Valentina ; De la Grange, Pierre ; Sette, Claudio

Nucleic acids research, 2020-01, Vol.48 (2), p.633-645 [Periódico revisado por pares]

England: Oxford University Press

Texto completo disponível

Citações Citado por
17
The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex
The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex
Material Type:
Artigo 		Adicionar ao Meu Espaço

The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex

Chi, Binkai ; O'Connell, Jeremy D ; Iocolano, Alexander D ; Coady, Jordan A ; Yu, Yong ; Gangopadhyay, Jaya ; Gygi, Steven P ; Reed, Robin

Nucleic acids research, 2018-12, Vol.46 (22), p.11939-11951 [Periódico revisado por pares]

England: Oxford University Press

Texto completo disponível

Citações Citado por
18
Immediate effect of spinal magnetic stimulation on camptocormia in Parkinson's disease
Immediate effect of spinal magnetic stimulation on camptocormia in Parkinson's disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Immediate effect of spinal magnetic stimulation on camptocormia in Parkinson's disease

Arii, Yoshiharu ; Sawada, Yuki ; Kawamura, Kazuyuki ; Miyake, Sayaka ; Taichi, Yasuo ; Izumi, Yuishin ; Kuroda, Yukiko ; Inui, Toshio ; Kaji, Ryuji ; Mitsui, Takao

Journal of neurology, neurosurgery and psychiatry, 2014-11, Vol.85 (11), p.1221-1226 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

Texto completo disponível

Citações Citado por
19
Axon microdissection and transcriptome profiling reveals the in vivo RNA content of fully differentiated myelinated motor axons
Axon microdissection and transcriptome profiling reveals the in vivo RNA content of fully differentiated myelinated motor axons
Material Type:
Artigo 		Adicionar ao Meu Espaço

Axon microdissection and transcriptome profiling reveals the in vivo RNA content of fully differentiated myelinated motor axons

Farias, Joaquina ; Holt, Christine E ; Sotelo, José R ; Sotelo-Silveira, José R

RNA (Cambridge), 2020-05, Vol.26 (5), p.595-612 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

Texto completo disponível

Citações Citado por
20
A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy
A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy

Sanchez, Gabriel ; Bondy-Chorney, Emma ; Laframboise, Janik ; Paris, Geneviève ; Didillon, Andréanne ; Jasmin, Bernard J ; Côté, Jocelyn

Nucleic acids research, 2016-04, Vol.44 (6), p.2661-2676 [Periódico revisado por pares]

England: Oxford University Press

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Mostrar Somente

  1. Revistas revisadas por pares (145)

Data de Publicação 

De até
Refinar
  1. Antes de1975  (16)
  2. 1975Até1987  (13)
  3. 1988Até2000  (27)
  4. 2001Até2011  (46)
  5. Após 2011  (48)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.