Literature DB >> 21060088

Child neurology: hereditary spastic paraplegia in children.

S T de Bot1, B P C van de Warrenburg, H P H Kremer, M A A P Willemsen.   

Abstract

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Year:  2010        PMID： 21060088     DOI： 10.1212/WNL.0b013e3181fc2776

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  15 in total

Review 1.  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

2.  A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.

Authors:  Servi J C Stevens; Eveline W Blom; Ingrid T J Siegelaer; Eric E J G L Smeets
Journal:  Eur J Hum Genet       Date:  2014-07-02       Impact factor: 4.246

3.  Neurotransmitter abnormalities and response to supplementation in SPG11.

Authors:  Adeline Vanderver; Davide Tonduti; Sarah Auerbach; Johanna L Schmidt; Sumit Parikh; Gordon C Gowans; Kelly E Jackson; Pamela L Brock; Marc Patterson; Michelle Nehrebecky; Rena Godfrey; Wadih M Zein; William Gahl; Camilo Toro
Journal:  Mol Genet Metab       Date:  2012-06-01       Impact factor: 4.797

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.  Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.

Authors:  Roshan Koul; Fathiya M Al-Murshedi; Faisal M Al-Azri; Ranjit Mani; Rana A Abdelrahim; Vivek Koul; Amna M Alfutaisi
Journal:  Sultan Qaboos Univ Med J       Date:  2013-06-25

6.  A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Authors:  Alexandros A Polymeris; Alessandra Tessa; Katherine Anagnostopoulou; Anna Rubegni; Daniele Galatolo; Argirios Dinopoulos; Artemis D Gika; Sotiris Youroukos; Eleni Skouteli; Filippo M Santorelli; Roser Pons
Journal:  J Neurol       Date:  2016-06-03       Impact factor: 4.849

7.  Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Authors:  Christian Beetz; Thomas R Pieber; Nicole Hertel; Maria Schabhüttl; Carina Fischer; Slave Trajanoski; Elisabeth Graf; Silke Keiner; Ingo Kurth; Thomas Wieland; Rita-Eva Varga; Vincent Timmerman; Mary M Reilly; Tim M Strom; Michaela Auer-Grumbach
Journal:  Am J Hum Genet       Date:  2012-06-14       Impact factor: 11.025

8.  Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.

Authors:  Anke Hensiek; Stephen Kirker; Evan Reid
Journal:  J Neurol       Date:  2014-12-06       Impact factor: 4.849

9.  Expanded phenotype in a patient with spastic paraplegia 7.

Authors:  Jennifer Gass; Patrick R Blackburn; Jessica Jackson; Sarah Macklin; Jay van Gerpen; Paldeep S Atwal
Journal:  Clin Case Rep       Date:  2017-08-24

10.  Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Authors:  Eleanna Kara; Arianna Tucci; Claudia Manzoni; David S Lynch; Marilena Elpidorou; Conceicao Bettencourt; Viorica Chelban; Andreea Manole; Sherifa A Hamed; Nourelhoda A Haridy; Monica Federoff; Elisavet Preza; Deborah Hughes; Alan Pittman; Zane Jaunmuktane; Sebastian Brandner; Georgia Xiromerisiou; Sarah Wiethoff; Lucia Schottlaender; Christos Proukakis; Huw Morris; Tom Warner; Kailash P Bhatia; L V Prasad Korlipara; Andrew B Singleton; John Hardy; Nicholas W Wood; Patrick A Lewis; Henry Houlden
Journal:  Brain       Date:  2016-05-23       Impact factor: 15.255
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