Literature DB >> 8551862

SMN gene deletions in adult-onset spinal muscular atrophy.

O Clermont, P Burlet, S Lefebvre, L Bürglen, A Munnich, J Melki.   

Abstract

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Year:  1995        PMID： 8551862     DOI： 10.1016/s0140-6736(95)92881-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  15 in total

1.  Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy.

Authors:  Sara K Custer; Elliot J Androphy
Journal:  Mol Cell Neurosci       Date:  2014-06-28       Impact factor: 4.314

2.  Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.

Authors:  B Wirth; L Brichta; B Schrank; H Lochmüller; S Blick; A Baasner; R Heller
Journal:  Hum Genet       Date:  2006-03-01       Impact factor: 4.132

3.  Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.

Authors:  Chitra C Iyer; Kaitlyn M Corlett; Aurélie Massoni-Laporte; Sandra I Duque; Narasimhan Madabusi; Sarah Tisdale; Vicki L McGovern; Thanh T Le; Phillip G Zaworski; W David Arnold; Livio Pellizzoni; Arthur H M Burghes
Journal:  Hum Mol Genet       Date:  2018-10-01       Impact factor: 6.150

4.  Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain.

Authors:  Claudia Scheckel; Elodie Drapeau; Maria A Frias; Christopher Y Park; John Fak; Ilana Zucker-Scharff; Yan Kou; Vahram Haroutunian; Avi Ma'ayan; Joseph D Buxbaum; Robert B Darnell
Journal:  Elife       Date:  2016-02-19       Impact factor: 8.140

5.  Motor neuron biology and disease: A current perspective on infantile-onset spinal muscular atrophy.

Authors:  Narendra N Jha; Jeong-Ki Kim; Umrao R Monani
Journal:  Future Neurol       Date:  2018-07-06

6.  Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.

Authors:  K Talbot; N Rodrigues; G Bernert; R Bittner; K Davies
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

Review 7.  Spinal Muscular Atrophy Modeling and Treatment Advances by Induced Pluripotent Stem Cells Studies.

Authors:  Raffaella Adami; Daniele Bottai
Journal:  Stem Cell Rev Rep       Date:  2019-12       Impact factor: 5.739

8.  Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond.

Authors:  Umrao R Monani; Darryl C De Vivo
Journal:  Future Neurol       Date:  2014-01-01

9.  Identification of SRSF10 as a regulator of SMN2 ISS-N1.

Authors:  Sabrina B Frederiksen; Lise L Holm; Martin R Larsen; Thomas K Doktor; Henriette S Andersen; Michelle L Hastings; Yimin Hua; Adrian R Krainer; Brage S Andresen
Journal:  Hum Mutat       Date:  2020-12-16       Impact factor: 4.878

10.  Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability.

Authors:  Huisheng Liu; Jianfeng Lu; Hong Chen; Zhongwei Du; Xue-Jun Li; Su-Chun Zhang
Journal:  Sci Rep       Date:  2015-07-20       Impact factor: 4.379
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