Literature DB >> 7522741

The rumpshaker mutation in spastic paraplegia.

H Kobayashi, E P Hoffman, H G Marks.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7522741     DOI： 10.1038/ng0794-351

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  28 in total

Review 1.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

Review 2.  The unfolded protein response in protein aggregating diseases.

Authors:  Alexander Gow; Ramaswamy Sharma
Journal:  Neuromolecular Med       Date:  2003       Impact factor: 3.843

3.  A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

Authors:  K Inoue; H Osaka; N Sugiyama; C Kawanishi; H Onishi; A Nezu; K Kimura; Y Yamada; K Kosaka
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.

Authors:  Lúcia Inês Macedo-Souza; Fernando Kok; Silvana Santos; Luciana Licinio; Karina Lezirovitz; Rafaella M P Nascimento; Clarissa Bueno; Marcília Martyn; Emília K E A Leão; Mayana Zatz
Journal:  Neurogenetics       Date:  2008-05-08       Impact factor: 2.660

5.  Modeling the natural history of Pelizaeus-Merzbacher disease.

Authors:  Joshua A Mayer; Ian R Griffiths; James E Goldman; Chelsey M Smith; Elizabeth Cooksey; Abigail B Radcliff; Ian D Duncan
Journal:  Neurobiol Dis       Date:  2015-01-03       Impact factor: 5.996

6.  A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors:  L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

7.  Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods.

Authors:  H Kobayashi; T C Matise; M W Perlin; H G Marks; E P Hoffman
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

8.  Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.

Authors:  P Hedera; S Rainier; D Alvarado; X Zhao; J Williamson; B Otterud; M Leppert; J K Fink
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

9.  Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.

Authors:  Yurika Numata; Toshifumi Morimura; Shoko Nakamura; Eriko Hirano; Shigeo Kure; Yu-Ich Goto; Ken Inoue
Journal:  J Biol Chem       Date:  2013-01-23       Impact factor: 5.157

10.  The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.

Authors:  Cherie M Southwood; James Garbern; Wei Jiang; Alexander Gow
Journal:  Neuron       Date:  2002-11-14       Impact factor: 17.173
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.