Literature DB >> 16565863

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12.

Stephan Züchner, Melanie E Kail, Martha A Nance, Perry C Gaskell, Ingrid K Svenson, Douglas A Marchuk, Margaret A Pericak-Vance, Allison E Ashley-Koch.   

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Year:  2006        PMID： 16565863     DOI： 10.1007/s10048-006-0029-1

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  5 in total

1.  Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.

Authors:  A Ashley-Koch; E R Bonner; P C Gaskell; S G West; R Tim; C M Wolpert; R Jones; C D Farrell; M Nance; I K Svenson; D A Marchuk; R M Boustany; J M Vance; W K Scott; M A Pericak-Vance
Journal:  Neurogenetics       Date:  2001-03       Impact factor: 2.660

Review 2.  Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.

Authors:  J K Fink; T Heiman-Patterson; T Bird; F Cambi; M P Dubé; D A Figlewicz; J K Fink; J L Haines; T Heiman-Patterson; A Hentati; M A Pericak-Vance; W Raskind; G A Rouleau; T Siddique
Journal:  Neurology       Date:  1996-06       Impact factor: 9.910

Review 3.  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

4.  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

5.  New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

Authors:  Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Peter H St George-Hyslop; Roberto Floris; Giorgio Bernardi
Journal:  Ann Neurol       Date:  2005-09       Impact factor: 10.422
  5 in total
  9 in total

1.  Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Authors:  Stephan Züchner; Gaofeng Wang; Khanh-Nhat Tran-Viet; Martha A Nance; Perry C Gaskell; Jeffery M Vance; Allison E Ashley-Koch; Margaret A Pericak-Vance
Journal:  Am J Hum Genet       Date:  2006-05-26       Impact factor: 11.025

2.  Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

Authors:  Paul N Valdmanis; Inge A Meijer; Annie Reynolds; Adrienne Lei; Patrick MacLeod; David Schlesinger; Mayana Zatz; Evan Reid; Patrick A Dion; Pierre Drapeau; Guy A Rouleau
Journal:  Am J Hum Genet       Date:  2006-12-01       Impact factor: 11.025

Review 3.  Genetics of motor neuron disorders: new insights into pathogenic mechanisms.

Authors:  Patrick A Dion; Hussein Daoud; Guy A Rouleau
Journal:  Nat Rev Genet       Date:  2009-10-13       Impact factor: 53.242

Review 4.  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

5.  A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.

Authors:  Jakob Hansen; Kirsten Svenstrup; Debbie Ang; Marit N Nielsen; Jane H Christensen; Niels Gregersen; Jørgen E Nielsen; Costa Georgopoulos; Peter Bross
Journal:  J Neurol       Date:  2007-04-10       Impact factor: 4.849

6.  REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Authors:  Christian Beetz; Rebecca Schüle; Tine Deconinck; Khanh-Nhat Tran-Viet; Hui Zhu; Berry P H Kremer; Suzanna G M Frints; Wendy A G van Zelst-Stams; Paula Byrne; Susanne Otto; Anders O H Nygren; Jonathan Baets; Katrien Smets; Berten Ceulemans; Bernard Dan; Narasimhan Nagan; Jan Kassubek; Sven Klimpe; Thomas Klopstock; Henning Stolze; Hubert J M Smeets; Constance T R M Schrander-Stumpel; Michael Hutchinson; Bart P van de Warrenburg; Corey Braastad; Thomas Deufel; Margaret Pericak-Vance; Ludger Schöls; Peter de Jonghe; Stephan Züchner
Journal:  Brain       Date:  2008-03-05       Impact factor: 13.501

Review 7.  Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.

Authors:  Baris Genc; Oge Gozutok; P Hande Ozdinler
Journal:  Int J Mol Sci       Date:  2019-08-07       Impact factor: 5.923

8.  Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.

Authors:  Héctor Cruz-Camino; Mercedes Vázquez-Cantú; Diana Laura Vázquez-Cantú; Jesús Santos-Guzmán; Antonio Bandala-Jacques; René Gómez-Gutiérrez; Consuelo Cantú-Reyna
Journal:  Am J Case Rep       Date:  2020-05-11

Review 9.  ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia.

Authors:  Sonia Sonda; Diana Pendin; Andrea Daga
Journal:  Cells       Date:  2021-10-25       Impact factor: 6.600
  9 in total

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