Literature DB >> 9192272

Pure hereditary spastic paraplegia.

E Reid1.   

Abstract

Entities:  

Mesh：

Year:  1997        PMID： 9192272      PMCID： PMC1050975          DOI： 10.1136/jmg.34.6.499

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  44 in total

Review 1.  Hereditary spastic paraplegias.

Authors:  A E Harding
Journal:  Semin Neurol       Date:  1993-12       Impact factor: 3.420

2.  The phenotype of "pure" autosomal dominant spastic paraplegia.

Authors:  A Dürr; A Brice; M Serdaru; G Rancurel; C Derouesné; O Lyon-Caen; Y Agid; B Fontaine
Journal:  Neurology       Date:  1994-07       Impact factor: 9.910

3.  Clinically silent dysfunction of dorsal columns and dorsal spinocerebellar tracts in hereditary spastic paraparesis.

Authors:  R P Bruyn; J G van Dijk; P Scheltens; E H Boezeman; B W Ongerboer de Visser
Journal:  J Neurol Sci       Date:  1994-09       Impact factor: 3.181

4.  Posterior tibial and sural nerve somatosensory evoked potentials: a study in spastic paraparesis and spinal cord lesions.

Authors:  C M Aalfs; J H Koelman; F E Posthumus Meyjes; B W Ongerboer de Visser
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1993-12

5.  Botulinum toxin in the management of the lower limb in cerebral palsy.

Authors:  A P Cosgrove; I S Corry; H K Graham
Journal:  Dev Med Child Neurol       Date:  1994-05       Impact factor: 5.449

6.  X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

Authors:  M Jouet; A Rosenthal; G Armstrong; J MacFarlane; R Stevenson; J Paterson; A Metzenberg; V Ionasescu; K Temple; S Kenwrick
Journal:  Nat Genet       Date:  1994-07       Impact factor: 38.330

7.  Voiding dysfunction in patients with spastic paraplegia: urodynamic evaluation and response to continuous intrathecal baclofen.

Authors:  W Bushman; W D Steers; J M Meythaler
Journal:  Neurourol Urodyn       Date:  1993       Impact factor: 2.696

8.  Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity.

Authors:  S Gispert; N Santos; R Damen; T Voit; J Schulz; T Klockgether; G Orozco; F Kreuz; J Weissenbach; G Auburger
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

9.  X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

Authors:  P Saugier-Veber; A Munnich; D Bonneau; J M Rozet; M Le Merrer; R Gil; O Boespflug-Tanguy
Journal:  Nat Genet       Date:  1994-03       Impact factor: 38.330

10.  Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

Authors:  A Hentati; M A Pericak-Vance; W Y Hung; S Belal; N Laing; R M Boustany; F Hentati; M Ben Hamida; T Siddique
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150
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  16 in total

Review 1.  Mitochondrial protein quality control in health and disease.

Authors:  Michael J Baker; Catherine S Palmer; Diana Stojanovski
Journal:  Br J Pharmacol       Date:  2014-04       Impact factor: 8.739

Review 2.  Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

3.  Identification of a novel SPG4 tandem base substitution in a Chinese hereditary spastic paraplegia family.

Authors:  Guohua Zhao; Xiaomin Liu; Peifang Jiang
Journal:  Neurol Sci       Date:  2016-12-10       Impact factor: 3.307

4.  A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.

Authors:  E Reid; A M Dearlove; M Rhodes; D C Rubinsztein
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

5.  Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Authors:  A S Teebi; S Miller; H Ostrer; P Eydoux; C Colomb-Brockmann; K Oudjhane; G Watters
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

6.  Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

Authors:  O Heinzlef; C Paternotte; F Mahieux; J F Prud'homme; J Dien; M Madigand; J Pouget; J Weissenbach; E Roullet; J Hazan
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

7.  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

Review 8.  Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.

Authors:  E Reid
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

9.  Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

Authors:  Umut Dursun; Cigdem Koroglu; Elif Kocasoy Orhan; Sibel Aylin Ugur; Aslihan Tolun
Journal:  Neurogenetics       Date:  2009-05-05       Impact factor: 2.660

10.  The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.

Authors:  Loretta Racis; Alessandra Tessa; Roberto Di Fabio; Eugenia Storti; Virgilio Agnetti; Carlo Casali; Filippo M Santorelli; Maura Pugliatti
Journal:  J Neurol       Date:  2013-10-20       Impact factor: 4.849
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