Literature DB >> 23161463

Recent advances in clinical neurogenetics.

José Berciano1.   

Abstract

Herein, I review the main papers in neurogenetic research published in the Journal of Neurology over the last year.

Mesh：

Year:  2012        PMID： 23161463     DOI： 10.1007/s00415-012-6757-2

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


  48 in total

1.  Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study.

Authors:  Thomas Meier; Susan L Perlman; Christian Rummey; Nicholas J Coppard; David R Lynch
Journal:  J Neurol       Date:  2011-07-22       Impact factor: 4.849

2.  Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.

Authors:  Michael M Dos Santos; Caspar Grond-Ginsbach; Suna Su Aksay; Bowang Chen; Sandrine Tchatchou; Nicole I Wolf; Marjo S van der Knaap; Armin J Grau
Journal:  J Neurol       Date:  2011-09-10       Impact factor: 4.849

Review 3.  Genetics of the dominant ataxias.

Authors:  Dineke S Verbeek; Bart P C van de Warrenburg
Journal:  Semin Neurol       Date:  2012-01-21       Impact factor: 3.420

Review 4.  Fragile X-associated disorders: a clinical overview.

Authors:  Anne Gallagher; Brian Hallahan
Journal:  J Neurol       Date:  2011-07-12       Impact factor: 4.849

5.  Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.

Authors:  Matthis Synofzik; Julia Schicks; Tobias Lindig; Saskia Biskup; Thorsten Schmidt; Jochen Hansel; Frank Lehmann-Horn; Ludger Schöls
Journal:  J Med Genet       Date:  2011-07-11       Impact factor: 6.318

6.  Neurological features in adult Triple-A (Allgrove) syndrome.

Authors:  Anne-Evelyne Vallet; Annie Verschueren; Philippe Petiot; Nadia Vandenberghe; Marc Nicolino; Sabine Roman; Jean Pouget; Christophe Vial
Journal:  J Neurol       Date:  2011-06-09       Impact factor: 4.849

7.  Longitudinal study on MRI intensity changes of Machado-Joseph disease: correlation between MRI findings and neuropathological changes.

Authors:  Yoshihiko Horimoto; Mitsuhiro Matsumoto; Hiroyasu Akatsu; Akihiro Kojima; Mari Yoshida; Kazuya Nokura; Hiroyuki Yuasa; Eiichi Katada; Takayuki Yamamoto; Kenji Kosaka; Yoshio Hashizume; Hiroko Yamamoto; Shigehisa Mitake
Journal:  J Neurol       Date:  2011-03-17       Impact factor: 4.849

8.  Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.

Authors:  Charalampos Tzoulis; Gia Tuong Tran; Ivar Otto Gjerde; Jan Aasly; Gesche Neckelmann; Jana Rydland; Viktoria Varga; Pia Wadel-Andersen; Laurence A Bindoff
Journal:  J Neurol       Date:  2011-07-27       Impact factor: 4.849

9.  Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

Authors:  Kazunori Sato; Ichiro Yabe; Hiroaki Yaguchi; Fumihito Nakano; Yasuyuki Kunieda; Shinji Saitoh; Hidenao Sasaki
Journal:  J Neurol       Date:  2011-02-08       Impact factor: 4.849

10.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Authors:  Sha Tang; Elliot L Dimberg; Margherita Milone; Lee-Jun C Wong
Journal:  J Neurol       Date:  2011-10-13       Impact factor: 4.849
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