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Literature DB >> 20878420

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

Pierre Labauge, Imen Dorboz, Eleonore Eymard-Pierre, Olivier Dereeper, Odile Boespflug-Tanguy.

Abstract

Entities: Gene Species

Mesh：

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Year: 2010 PMID： 20878420 DOI： 10.1007/s00415-010-5755-5

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

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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. 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

3. Brain MRI and proton MRS findings in infants and children with respiratory chain defects.

Authors: A Dinopoulos; K M Cecil; M B Schapiro; A Papadimitriou; G M Hadjigeorgiou; B Wong; T deGrauw; J C Egelhoff
Journal: Neuropediatrics Date: 2005-10 Impact factor: 1.947

4. 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

5. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

Authors: Pierre Labauge; Laetitia Horzinski; Xavier Ayrignac; Pierre Blanc; Sandra Vukusic; Diana Rodriguez; Francois Mauguiere; Laure Peter; Cyril Goizet; Francoise Bouhour; Christian Denier; Christian Confavreux; Michael Obadia; Frederic Blanc; Jérome de Sèze; Anne Fogli; Odile Boespflug-Tanguy
Journal: Brain Date: 2009-08 Impact factor: 13.501

6. 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

Review 7. Translation matters: protein synthesis defects in inherited disease.

Authors: Gert C Scheper; Marjo S van der Knaap; Christopher G Proud
Journal: Nat Rev Genet Date: 2007-07-31 Impact factor: 53.242

7 in total

18 in total

1. 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

Review 2. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

Authors: James D Weisfeld-Adams; Ilana B Katz Sand; Justin M Honce; Fred D Lublin
Journal: Brain Date: 2015-01-29 Impact factor: 13.501

Review 3. Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis.

Authors: S Arthur Moore; Neeraj Kumar; Ralitza H Gavrilova
Journal: J Neurol Date: 2012-07-29 Impact factor: 4.849

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

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

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

3. Brain MRI and proton MRS findings in infants and children with respiratory chain defects.

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

5. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

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

Review 7. Translation matters: protein synthesis defects in inherited disease.

1. 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.

Review 2. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

Review 3. Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis.

Review 4. Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.

Review 5. Human aminoacyl-tRNA synthetases in diseases of the nervous system.

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

Review 7. Differential diagnosis of white matter lesions: Nonvascular causes-Part II.

8. MRI pattern approach of adult-onset inherited leukoencephalopathies.

Review 9. The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

Review 10. Aminoacyl-tRNA synthetases in medicine and disease.