Literature DB >> 22820683

Clinical neurogenetics: recent advances.

Davide Pareyson1, Ettore Salsano.   

Abstract

In this review, progress in clinical neurogenetics research published in the Journal of Neurology during the past year is summarized.

Mesh：

Year:  2012        PMID： 22820683     DOI： 10.1007/s00415-012-6602-7

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


  28 in total

1.  MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands.

Authors:  Henriette J Tschampa; Susanne Greschus; Michael Vinahl; Horst Urbach; Marcus M Mueller; Wanda M Gerding
Journal:  J Neurol       Date:  2010-12-04       Impact factor: 4.849

Review 2.  The clinical spectrum of late-onset Alexander disease: a systematic literature review.

Authors:  Pietro Balbi; Silvana Salvini; Cira Fundarò; Giuseppe Frazzitta; Roberto Maestri; Dibo Mosah; Carla Uggetti; GianPietro Sechi
Journal:  J Neurol       Date:  2010-08-20       Impact factor: 4.849

3.  Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

Authors:  Antonio Orlacchio; Pasqua Montieri; Carla Babalini; Fabrizio Gaudiello; Giorgio Bernardi; Toshitaka Kawarai
Journal:  J Neurol       Date:  2011-02-19       Impact factor: 4.849

Review 4.  New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.

Authors:  José Berciano; Elena Gallardo; Antonio García; Ana L Pelayo-Negro; Jon Infante; Onofre Combarros
Journal:  J Neurol       Date:  2011-05-18       Impact factor: 4.849

5.  CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Authors:  Mustapha Ghanim; Léna Guillot-Noel; Florence Pasquier; Ludmila Jornea; Vincent Deramecourt; Bruno Dubois; Isabelle Le Ber; Alexis Brice
Journal:  J Neurol       Date:  2010-07-14       Impact factor: 4.849

6.  Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.

Authors:  Maria Laura Stromillo; Alessandro Malandrini; Maria Teresa Dotti; Marco Battaglini; Federico Borgogni; Alessandra Tessa; Eugenia Storti; Paola S Denora; Filippo Maria Santorelli; Carmen Gaudiano; Carla Battisti; Antonio Federico; Nicola De Stefano
Journal:  J Neurol       Date:  2011-05-29       Impact factor: 4.849

7.  Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

Authors:  Magdalena Zimoń; Jonathan Baets; Michaela Auer-Grumbach; José Berciano; Antonio Garcia; Eduardo Lopez-Laso; Luciano Merlini; David Hilton-Jones; Meriel McEntagart; Andrew H Crosby; Nina Barisic; Eugen Boltshauser; Christopher E Shaw; Guida Landouré; Christy L Ludlow; Rachelle Gaudet; Henry Houlden; Mary M Reilly; Kenneth H Fischbeck; Charlotte J Sumner; Vincent Timmerman; Albena Jordanova; Peter De Jonghe
Journal:  Brain       Date:  2010-05-11       Impact factor: 13.501

8.  A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.

Authors:  Hideya Sakaguchi; Satoshi Yamashita; Akiko Miura; Tomoo Hirahara; En Kimura; Yasushi Maeda; Tadashi Terasaki; Teruyuki Hirano; Makoto Uchino
Journal:  J Neurol       Date:  2010-09-21       Impact factor: 4.849

Review 9.  Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

Authors:  Davide Pareyson; Roberto Fancellu; Caterina Mariotti; Silvia Romano; Andrea Salmaggi; Francesco Carella; Floriano Girotti; Grazietta Gattellaro; Maria Rita Carriero; Laura Farina; Isabella Ceccherini; Mario Savoiardo
Journal:  Brain       Date:  2008-08-06       Impact factor: 13.501

10.  Photomyogenic response in Niemann-Pick type C: a case report.

Authors:  A Bour; J Nicolai; H van Schrojenstein Lantman-de Valk; V van Kranen-Mastenbroek
Journal:  J Neurol       Date:  2010-10-27       Impact factor: 4.849
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