Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Claribel D. Wee"'
Publikováno v:
Stroke: Vascular and Interventional Neurology, Vol 3, Iss S2 (2023)
Introduction The AOP is a rare anatomic variant in which a solitary arterial trunk arises from the proximal segment of the posterior cerebral artery (PCA) and supplies the bilateral paramedian thalami and rostral midbrain. Occlusion may result in var
Externí odkaz:
https://doaj.org/article/1fdf632d8ae74b01b879ba6880f841eb
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e115205 (2014)
Spinal muscular atrophy (SMA) is one of the most common inherited causes of pediatric mortality. SMA is caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene, which results in SMN protein deficiency. Humans have a centromeric
Externí odkaz:
https://doaj.org/article/166cac0372c84299aa78db6df1bee0e2
Autor:
Avneet Singh, Stephanie Loveless, Husitha Reddy Vanguru, Karen C. Albright, Rashid Ahmed, Tejeswi Suryadevara, Gene Latorre, Claribel D Wee, Danielle Hawley
Publikováno v:
Stroke. 52
Paroxysmal atrial fibrillation (Afib) detection in cryptogenic stroke is difficult but essential because it changes management. We describe a scoring system that discriminates between cryptogenic ischemic stroke patients with implantable loop recorde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64e83d2ac9407b9f9b0658e9ecca5042
https://doi.org/10.1161/str.52.suppl_1.p654
https://doi.org/10.1161/str.52.suppl_1.p654
Autor:
Zhihua Feng, Charlotte J. Sumner, Ming-Yi Lin, Bing Xia, Livio Pellizzoni, James R. Rusche, Wenyan Miao, Rebecca M. Gibbs, Claribel D. Wee, Shefali Sharma, Darrick K. Li, Vincent Jacques, Chien-Ping Ko, Heather L. Plasterer, James P. Van Meerbeke, Agnieszka A. Rucki
Publikováno v:
Human Molecular Genetics. 22:4074-4083
Spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene, retention of the survival motor neuron 2 (SMN2) gene and insufficient expression of full-length survival motor neuron (SMN) protein. Quinazolines increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf052fcc3894eb1c4ce259b62959b112
https://doi.org/10.1093/hmg/ddt257
https://doi.org/10.1093/hmg/ddt257
Autor:
Leigh C. Warsing, Charlotte J. Sumner, Dong W. Choe, Cathleen M. Lutz, Claribel D. Wee, Kathryn R. Wagner, Andrew S. Ng
Publikováno v:
Human Molecular Genetics. 18:3145-3152
There is currently no treatment for the inherited motor neuron disease, spinal muscular atrophy (SMA). Severe SMA causes lower motor neuron loss, impaired myofiber development, profound muscle weakness and early mortality. Myostatin is a transforming
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed79d95e71ea17214cb54b5cab83f18
https://doi.org/10.1093/hmg/ddp253
https://doi.org/10.1093/hmg/ddp253
Autor:
Celeste E. Lipkes, Dong W. Choe, Marta Bosch-Marce, Charlotte J. Sumner, Lingling Kong, Claribel D. Wee, Tara Martinez, James P. Van Meerbeke, Antonio Musarò
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (9), pp.1844-53. ⟨10.1093/hmg/ddr067⟩
Human Molecular Genetics; Vol 20
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (9), pp.1844-53. ⟨10.1093/hmg/ddr067⟩
Human Molecular Genetics; Vol 20
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN protein. Severe SMA mice have abnormal motor function and small, immature myofibers early i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026997446d9b5ad67a22868d73ab3012
https://pubmed.ncbi.nlm.nih.gov/21325354
https://pubmed.ncbi.nlm.nih.gov/21325354
Publikováno v:
Current opinion in neurology. 23(5)
Purpose of review This article reviews clinical, genetic, and therapeutic advances in spinal muscular atrophies (SMAs), inherited disorders characterized by motor neuron loss and muscle weakness. Recent findings There has been progress in defining th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fab9d0f6e2aa0c26959cd7018815218
https://pubmed.ncbi.nlm.nih.gov/20733483
https://pubmed.ncbi.nlm.nih.gov/20733483