Literature DB >> 10896685

Hereditary spastic paraparesis: a review of new developments.

C McDermott1, K White, K Bushby, P Shaw.   

Abstract

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Year:  2000        PMID： 10896685      PMCID： PMC1737070          DOI： 10.1136/jnnp.69.2.150

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  118 in total

1.  The rumpshaker mutation in spastic paraplegia.

Authors:  H Kobayashi; E P Hoffman; H G Marks
Journal:  Nat Genet       Date:  1994-07       Impact factor: 38.330

2.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Authors:  J Hazan; N Fonknechten; D Mavel; C Paternotte; D Samson; F Artiguenave; C S Davoine; C Cruaud; A Dürr; P Wincker; P Brottier; L Cattolico; V Barbe; J M Burgunder; J F Prud'homme; A Brice; B Fontaine; B Heilig; J Weissenbach
Journal:  Nat Genet       Date:  1999-11       Impact factor: 38.330

3.  Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.

Authors:  S Webb; D Coleman; P Byrne; N Parfrey; T Burke; J Hutchinson; M Hutchinson
Journal:  Brain       Date:  1998-04       Impact factor: 13.501

4.  Familial spastic paraplegia (a review with four case reports).

Authors:  G Arjundas; B Ramamurthi; L Chettur
Journal:  J Assoc Physicians India       Date:  1971-09

Review 5.  Sensory neuropathy in hereditary spastic paraplegia.

Authors:  W Schady; C M Smith
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-06       Impact factor: 10.154

6.  X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

Authors:  D Bonneau; J M Rozet; C Bulteau; M Berthier; R Mettey; R Gil; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

7.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  J P Bouchard; A Barbeau; R Bouchard; R W Bouchard
Journal:  Can J Neurol Sci       Date:  1978-02       Impact factor: 2.104

8.  Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.

Authors:  A Hentati; M A Pericak-Vance; F Lennon; B Wasserman; F Hentati; T Juneja; M H Angrist; W Y Hung; R M Boustany; S Bohlega
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

9.  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

10.  The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia.

Authors:  T Meyer; C Münch; H Völkel; P Booms; A C Ludolph
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-10       Impact factor: 10.154
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  62 in total

1.  The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

Authors:  P McMonagle; S Webb; M Hutchinson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-01       Impact factor: 10.154

Review 2.  Cerebral palsy: not always what it seems.

Authors:  R Gupta; R E Appleton
Journal:  Arch Dis Child       Date:  2001-11       Impact factor: 3.791

3.  Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Authors:  Michael A Simpson; Harold Cross; Christos Proukakis; Anna Pryde; Ruth Hershberger; Arnaud Chatonnet; Michael A Patton; Andrew H Crosby
Journal:  Am J Hum Genet       Date:  2003-10-16       Impact factor: 11.025

Review 4.  Is the transportation highway the right road for hereditary spastic paraplegia?

Authors:  Andrew H Crosby; Christos Proukakis
Journal:  Am J Hum Genet       Date:  2002-09-24       Impact factor: 11.025

5.  Whole brain-based analysis of regional white matter tract alterations in rare motor neuron diseases by diffusion tensor imaging.

Authors:  Alexander Unrath; Hans-Peter Müller; Axel Riecker; Albert C Ludolph; Anne-Dorte Sperfeld; Jan Kassubek
Journal:  Hum Brain Mapp       Date:  2010-11       Impact factor: 5.038

6.  Complicated hereditary spastic paraplegia with thin corpus callosum: variation of phenotypic expression over time.

Authors:  Anne-Dörte Sperfeld; Jan Kassubek; Andrew H Crosby; Beate Winner; Albert C Ludolph; Ingo Uttner; C Oliver Hanemann
Journal:  J Neurol       Date:  2004-10       Impact factor: 4.849

7.  Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

Authors:  Charalampos Tzoulis; Paola S Denora; Filippo M Santorelli; Laurence A Bindoff
Journal:  J Neurol       Date:  2008-06-23       Impact factor: 4.849

8.  Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.

Authors:  Tiziana Sacco; Enrica Boda; Eriola Hoxha; Riccardo Pizzo; Claudia Cagnoli; Alfredo Brusco; Filippo Tempia
Journal:  BMC Neurosci       Date:  2010-04-28       Impact factor: 3.288

9.  Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

Authors:  Mark Braschinsky; Riin Tamm; Christian Beetz; Elena Sachez-Ferrero; Elve Raukas; Siiri-Merike Lüüs; Katrin Gross-Paju; Catherine Boillot; Federico Canzian; Andres Metspalu; Sulev Haldre
Journal:  BMC Neurol       Date:  2010-03-09       Impact factor: 2.474

10.  Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

Authors:  Bo Thomsen; Peter H Nissen; Jørgen S Agerholm; Christian Bendixen
Journal:  Neurogenetics       Date:  2009-08-28       Impact factor: 2.660
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