Literature DB >> 27544497

Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum.

Sanjiban Chakrabarty1, Nimish Vijayakumar2, Kurupath Radhakrishnan2, Kapaettu Satyamoorthy3.   

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Year:  2016        PMID： 27544497     DOI： 10.1007/s00415-016-8258-1

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  13 in total

1.  Hereditary spastic paraplegia with a thin corpus callosum due to SPG11 mutation.

Authors:  Samir Patel; Prahlad Kumar Sethi; Ish Anand; Anuradha Batra; Pooja Gupta
Journal:  Neurol India       Date:  2016 Jan-Feb       Impact factor: 2.117

2.  Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.

Authors:  Alexander Lossos; Giovanni Stevanin; Vardiella Meiner; Zohar Argov; Naima Bouslam; J P Newman; John M Gomori; Stephan Klebe; Israela Lerer; Nizar Elleuch; Shira Silverstein; Alexandra Durr; Oded Abramsky; Ziva Ben-Nariah; Alexis Brice
Journal:  Arch Neurol       Date:  2006-05

3.  Hereditary spastic paraplegia with a thin corpus callosum.

Authors:  Sivaraman Somasundaram; Seetharam Raghavendra; Atampreet Singh; Chandrasekharan Kesavadas; Muraleedharan Nair
Journal:  Pediatr Radiol       Date:  2007-03-27

4.  Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.

Authors:  Reena Prity Murmu; Elodie Martin; Agnès Rastetter; Typhaine Esteves; Marie-Paule Muriel; Khalid Hamid El Hachimi; Paola Silvia Denora; Aurélien Dauphin; José Carlos Fernandez; Charles Duyckaerts; Alexis Brice; Frédéric Darios; Giovanni Stevanin
Journal:  Mol Cell Neurosci       Date:  2011-04-27       Impact factor: 4.314

5.  Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.

Authors:  Sung-Min Kim; Jeong-Seon Lee; Suhyun Kim; Hyun-Jung Kim; Man-Ho Kim; Kyoung-Min Lee; Yoon-Ho Hong; Kyung Seok Park; Jung-Joon Sung; Kwang-Woo Lee
Journal:  J Neurol       Date:  2009-06-10       Impact factor: 4.849

6.  Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.

Authors:  M Riverol; L Samaranch; B Pascual; P Pastor; J Irigoyen; M A Pastor; P de Castro; J C Masdeu
Journal:  J Neuroimaging       Date:  2008-11-21       Impact factor: 2.486

Review 7.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

8.  Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

Authors:  R Schüle; N Schlipf; M Synofzik; S Klebe; S Klimpe; U Hehr; B Winner; T Lindig; A Dotzer; O Riess; J Winkler; L Schöls; P Bauer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-12       Impact factor: 10.154

9.  Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

Authors:  Sylvain Hanein; Elodie Martin; Amir Boukhris; Paula Byrne; Cyril Goizet; Abdelmadjid Hamri; Ali Benomar; Alexander Lossos; Paola Denora; José Fernandez; Nizar Elleuch; Sylvie Forlani; Alexandra Durr; Imed Feki; Michael Hutchinson; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2008-04       Impact factor: 11.025

10.  Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia.

Authors:  Viorica Chelban; David S Lynch; Henry Houlden; Nick Wood
Journal:  J Neurol       Date:  2016-03-30       Impact factor: 4.849
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  1 in total

1.  "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Authors:  B Pascual; S T de Bot; M R Daniels; M C França; C Toro; M Riverol; P Hedera; M T Bassi; N Bresolin; B P van de Warrenburg; B Kremer; J Nicolai; P Charles; J Xu; S Singh; N J Patronas; S H Fung; M D Gregory; J C Masdeu
Journal:  AJNR Am J Neuroradiol       Date:  2019-01-03       Impact factor: 3.825
  1 in total

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