Literature DB >> 22843165

Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis.

S Arthur Moore, Neeraj Kumar, Ralitza H Gavrilova.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22843165     DOI： 10.1007/s00415-012-6596-1

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


× No keyword cloud information.
  7 in total

1.  Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate.

Authors:  G C Petzold; G Bohner; R Klingebiel; N Amberger; M S van der Knaap; R Zschenderlein
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-07       Impact factor: 10.154

2.  Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.

Authors:  Pierre Labauge; Imen Dorboz; Eleonore Eymard-Pierre; Olivier Dereeper; Odile Boespflug-Tanguy
Journal:  J Neurol       Date:  2010-09-29       Impact factor: 4.849

3.  Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression.

Authors:  Pierre Labauge; Etienne Roullet; Odile Boespflug-Tanguy; François Nicoli; Yann Le Fur; Patrick J Cozzone; Denis Ducreux; Diana Rodriguez
Journal:  Eur Neurol       Date:  2007-05-04       Impact factor: 1.710

4.  A novel homozygous mutation of DARS2 may cause a severe LBSL variant.

Authors:  N Miyake; S Yamashita; K Kurosawa; S Miyatake; Y Tsurusaki; H Doi; H Saitsu; N Matsumoto
Journal:  Clin Genet       Date:  2011-09       Impact factor: 4.438

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.  Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Authors:  Gert C Scheper; Thom van der Klok; Rob J van Andel; Carola G M van Berkel; Marie Sissler; Joél Smet; Tatjana I Muravina; Sergey V Serkov; Graziella Uziel; Marianna Bugiani; Raphael Schiffmann; Ingeborg Krägeloh-Mann; Jan A M Smeitink; Catherine Florentz; Rudy Van Coster; Jan C Pronk; Marjo S van der Knaap
Journal:  Nat Genet       Date:  2007-03-25       Impact factor: 38.330

7.  A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

Authors:  Marjo S van der Knaap; Patrick van der Voorn; Frederik Barkhof; Rudy Van Coster; Ingeborg Krägeloh-Mann; Annette Feigenbaum; Susan Blaser; Johan S H Vles; Peter Rieckmann; Petra J W Pouwels
Journal:  Ann Neurol       Date:  2003-02       Impact factor: 10.422
  7 in total
  2 in total

1.  A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings.

Authors:  H Alibas; P K Koytak; G Ekinci; K Uluc
Journal:  Clin Neuroradiol       Date:  2013-09-05       Impact factor: 3.649

2.  Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.

Authors:  Mika H Martikainen; Ulla Ellfolk; Kari Majamaa
Journal:  J Neurol       Date:  2013-05-08       Impact factor: 4.849
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.