Literature DB >> 15635080

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

P A Wilkinson, M A Simpson, L Bastaki, H Patel, J A Reed, K Kalidas, E Samilchuk, R Khan, T T Warner, A H Crosby.   

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Year:  2005        PMID： 15635080      PMCID： PMC1735920          DOI： 10.1136/jmg.2004.020172

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


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  10 in total

1.  Ganglioside regulation of AMPA receptor trafficking.

Authors:  Jillian Prendergast; George K E Umanah; Seung-Wan Yoo; Olof Lagerlöf; Mary G Motari; Robert N Cole; Richard L Huganir; Ted M Dawson; Valina L Dawson; Ronald L Schnaar
Journal:  J Neurosci       Date:  2014-09-24       Impact factor: 6.167

Review 2.  Human genetic disorders of sphingolipid biosynthesis.

Authors:  Leonardo Astudillo; Frédérique Sabourdy; Nicole Therville; Heiko Bode; Bruno Ségui; Nathalie Andrieu-Abadie; Thorsten Hornemann; Thierry Levade
Journal:  J Inherit Metab Dis       Date:  2014-08-21       Impact factor: 4.982

3.  Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Authors:  Amir Boukhris; Rebecca Schule; José L Loureiro; Charles Marques Lourenço; Emeline Mundwiller; Michael A Gonzalez; Perrine Charles; Julie Gauthier; Imen Rekik; Rafael F Acosta Lebrigio; Marion Gaussen; Fiorella Speziani; Andreas Ferbert; Imed Feki; Andrés Caballero-Oteyza; Alexandre Dionne-Laporte; Mohamed Amri; Anne Noreau; Sylvie Forlani; Vitor T Cruz; Fanny Mochel; Paula Coutinho; Patrick Dion; Chokri Mhiri; Ludger Schols; Jean Pouget; Frédéric Darios; Guy A Rouleau; Wilson Marques; Alexis Brice; Alexandra Durr; Stephan Zuchner; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2013-06-06       Impact factor: 11.025

4.  Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.

Authors:  Kazuhiro Aoki; Adam D Heaps; Kevin A Strauss; Michael Tiemeyer
Journal:  Clin Mass Spectrom       Date:  2019-03-16

Review 5.  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

Review 6.  Hereditary spastic paraplegia.

Authors:  John K Fink
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081

7.  Developmental and degenerative features in a complicated spastic paraplegia.

Authors:  M Chiara Manzini; Anna Rajab; Thomas M Maynard; Ganeshwaran H Mochida; Wen-Hann Tan; Ramzi Nasir; R Sean Hill; Danielle Gleason; Muna Al Saffar; Jennifer N Partlow; Brenda J Barry; Mike Vernon; Anthony-Samuel LaMantia; Christopher A Walsh
Journal:  Ann Neurol       Date:  2010-04       Impact factor: 10.422

Review 8.  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

Review 9.  Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.

Authors:  Liena E O Elsayed; Isra Zuhair Eltazi; Ammar E Ahmed; Giovanni Stevanin
Journal:  Front Mol Biosci       Date:  2021-11-26

10.  Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Authors:  Gaurav V Harlalka; Anna Lehman; Barry Chioza; Emma L Baple; Reza Maroofian; Harold Cross; Ajith Sreekantan-Nair; David A Priestman; Saeed Al-Turki; Meriel E McEntagart; Christos Proukakis; Louise Royle; Radoslaw P Kozak; Laila Bastaki; Michael Patton; Karin Wagner; Roselyn Coblentz; Joy Price; Michelle Mezei; Kamilla Schlade-Bartusiak; Frances M Platt; Matthew E Hurles; Andrew H Crosby
Journal:  Brain       Date:  2013-10-07       Impact factor: 13.501
  10 in total

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