Literature DB >> 15503116

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

Anne-Dörte Sperfeld, Jan Kassubek, Andrew H Crosby, Beate Winner, Albert C Ludolph, Ingo Uttner, C Oliver Hanemann.   

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Year:  2004        PMID： 15503116     DOI： 10.1007/s00415-004-0562-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  12 in total

Review 1.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

2.  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

3.  Hereditary spastic paraplegia: the pace quickens.

Authors:  John K Fink
Journal:  Ann Neurol       Date:  2002-06       Impact factor: 10.422

4.  Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity?

Authors:  S Farah; M A Sabry; A F al-Shubaili; J T Anim; J M Hussain; M A Montaser; K M Sharfuddin
Journal:  Clin Neurol Neurosurg       Date:  1997-02       Impact factor: 1.876

Review 5.  Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.

Authors:  H Kobayashi; C A Garcia; G Alfonso; H G Marks; E P Hoffman
Journal:  J Neurol Sci       Date:  1996-05       Impact factor: 3.181

6.  Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Authors:  Beate Winner; Goekhan Uyanik; Claudia Gross; Max Lange; Wilhelm Schulte-Mattler; Gerhard Schuierer; Joerg Marienhagen; Ute Hehr; Juergen Winkler
Journal:  Arch Neurol       Date:  2004-01

7.  SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Authors:  Heema Patel; Harold Cross; Christos Proukakis; Ruth Hershberger; Peer Bork; Francesca D Ciccarelli; Michael A Patton; Victor A McKusick; Andrew H Crosby
Journal:  Nat Genet       Date:  2002-07-22       Impact factor: 38.330

Review 8.  The hereditary spastic paraplegias: nine genes and counting.

Authors:  John K Fink
Journal:  Arch Neurol       Date:  2003-08

9.  Familial spastic paraplegia with mental impairment and thin corpus callosum.

Authors:  A Nakamura; K Izumi; F Umehara; M Kuriyama; Y Hokezu; M Nakagawa; K Shimmyozu; S Izumo; M Osame
Journal:  J Neurol Sci       Date:  1995-07       Impact factor: 3.181

10.  Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.

Authors:  C Casali; E M Valente; E Bertini; G Montagna; C Criscuolo; G De Michele; M Villanova; M Damiano; A Pierallini; F Brancati; V Scarano; A Tessa; F Cricchi; G S Grieco; M Muglia; M Carella; B Martini; A Rossi; G A Amabile; G Nappi; A Filla; B Dallapiccola; F M Santorelli
Journal:  Neurology       Date:  2004-01-27       Impact factor: 9.910
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  4 in total

1.  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

2.  Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Authors:  Giovanni Stevanin; Giorgia Montagna; Hamid Azzedine; Enza Maria Valente; Alexandra Durr; Valentina Scarano; Naima Bouslam; Denise Cassandrini; Paola S Denora; Chiara Criscuolo; Soraya Belarbi; Antonio Orlacchio; Philippe Jonveaux; Gabriella Silvestri; Anne Marie Ouvrad Hernandez; Giuseppe De Michele; Meriem Tazir; Caterina Mariotti; Knut Brockmann; Alessandro Malandrini; Marjo S van der Knapp; Marcella Neri; Hassan Tonekaboni; Mariarosa A B Melone; Alessandra Tessa; M Teresa Dotti; Michela Tosetti; Flavia Pauri; Antonio Federico; Carlo Casali; Vitor T Cruz; José L Loureiro; Federico Zara; Sylvie Forlani; Enrico Bertini; Paula Coutinho; Alessandro Filla; Alexis Brice; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2006-05-13       Impact factor: 2.660

3.  MR imaging findings in autosomal recessive hereditary spastic paraplegia.

Authors:  R Hourani; T El-Hajj; W H Barada; M Hourani; B I Yamout
Journal:  AJNR Am J Neuroradiol       Date:  2009-02-04       Impact factor: 3.825

4.  Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.

Authors:  Tatyana Pozner; Martin Regensburger; Tobias Engelhorn; Jürgen Winkler; Beate Winner
Journal:  Brain       Date:  2020-08-01       Impact factor: 13.501
  4 in total

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