Literature DB >> 19252810

Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.

Frans Brugman, Hans Scheffer, H Jurgen Schelhaas, Willy M Nillesen, John H J Wokke, Bart P C van de Warrenburg, Leonard H van den Berg.   

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Year:  2009        PMID： 19252810     DOI： 10.1007/s00415-009-5009-6

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


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  14 in total

Review 1.  Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis.

Authors:  J K Fink
Journal:  Semin Neurol       Date:  2001-06       Impact factor: 3.420

Review 2.  El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis.

Authors:  B R Brooks; R G Miller; M Swash; T L Munsat
Journal:  Amyotroph Lateral Scler Other Motor Neuron Disord       Date:  2000-12

3.  Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

Authors:  Michaela Auer-Grumbach; Beate Schlotter-Weigel; Hanns Lochmüller; Gertrud Strobl-Wildemann; Piet Auer-Grumbach; Renate Fischer; Hans Offenbacher; Ernst Bernhard Zwick; Tanja Robl; Gerald Hartl; Hans-Peter Hartung; Klaus Wagner; Christian Windpassinger
Journal:  Ann Neurol       Date:  2005-03       Impact factor: 10.422

Review 4.  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Authors:  Sara Salinas; Christos Proukakis; Andrew Crosby; Thomas T Warner
Journal:  Lancet Neurol       Date:  2008-12       Impact factor: 44.182

5.  Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

Authors:  Daisuke Ito; Norihiro Suzuki
Journal:  Ann Neurol       Date:  2007-03       Impact factor: 10.422

6.  Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

Authors:  A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-10       Impact factor: 10.154

Review 7.  The hereditary spastic paraplegias: nine genes and counting.

Authors:  John K Fink
Journal:  Arch Neurol       Date:  2003-08

8.  A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Authors:  K J Dick; R Al-Mjeni; W Baskir; R Koul; M A Simpson; M A Patton; S Raeburn; A H Crosby
Journal:  Neurology       Date:  2008-05-07       Impact factor: 9.910

9.  Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Authors:  Christian Windpassinger; Michaela Auer-Grumbach; Joy Irobi; Heema Patel; Erwin Petek; Gerd Hörl; Roland Malli; Johanna A Reed; Ines Dierick; Nathalie Verpoorten; Thomas T Warner; Christos Proukakis; Peter Van den Bergh; Christine Verellen; Lionel Van Maldergem; Luciano Merlini; Peter De Jonghe; Vincent Timmerman; Andrew H Crosby; Klaus Wagner
Journal:  Nat Genet       Date:  2004-02-22       Impact factor: 38.330

10.  Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Authors:  Barbara Rohkamm; Mary M Reilly; Hanns Lochmüller; Beate Schlotter-Weigel; Nina Barisic; Ludger Schöls; Garth Nicholson; Davide Pareyson; Matilde Laurà; Andreas R Janecke; Gabriel Miltenberger-Miltenyi; Elisabeth John; Carina Fischer; Franz Grill; William Wakeling; Mary Davis; Thomas R Pieber; Michaela Auer-Grumbach
Journal:  J Neurol Sci       Date:  2007-07-30       Impact factor: 3.181
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  2 in total

1.  A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement.

Authors:  Joana Ramos-Lopes; Joana Ribeiro; Mário Laço; Cristina Alves; Anabela Matos; Cármen Costa
Journal:  J Pediatr Genet       Date:  2020-07-08

2.  Motor neuron degeneration in a mouse model of seipinopathy.

Authors:  J Guo; W Qiu; S L Y Soh; S Wei; G K Radda; W-Y Ong; Z P Pang; W Han
Journal:  Cell Death Dis       Date:  2013-03-07       Impact factor: 8.469
  2 in total

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