Literature DB >> 16339848

Advances in genetics: what are the benefits for patients?

A Munnich.   

Abstract

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Year:  2005        PMID： 16339848      PMCID： PMC2564550          DOI： 10.1136/jmg.2005.039966

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  22 in total

1.  Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus.

Authors:  P Coubes; A Roubertie; N Vayssiere; S Hemm; B Echenne
Journal:  Lancet       Date:  2000-06-24       Impact factor: 79.321

2.  Management of fatty acid oxidation disorders: a survey of current treatment strategies.

Authors:  Java O Solis; Rani H Singh
Journal:  J Am Diet Assoc       Date:  2002-12

3.  Mechanism of the anti-inflammatory effect of colchicine in rheumatic diseases: a possible new outlook through microarray analysis.

Authors:  E Ben-Chetrit; S Bergmann; R Sood
Journal:  Rheumatology (Oxford)       Date:  2005-09-27       Impact factor: 7.580

Review 4.  Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.

Authors:  David J Kwiatkowski; Brendan D Manning
Journal:  Hum Mol Genet       Date:  2005-10-15       Impact factor: 6.150

5.  Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.

Authors:  A Rötig; E L Appelkvist; V Geromel; D Chretien; N Kadhom; P Edery; M Lebideau; G Dallner; A Munnich; L Ernster; P Rustin
Journal:  Lancet       Date:  2000-07-29       Impact factor: 79.321

Review 6.  Current and emerging therapies for the lysosomal storage disorders.

Authors:  Gregory M Pastores; Natalie L Barnett
Journal:  Expert Opin Emerg Drugs       Date:  2005-11       Impact factor: 4.191

7.  Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome.

Authors:  Craig F J Munns; Frank Rauch; Rose Travers; Francis H Glorieux
Journal:  J Bone Miner Res       Date:  2005-02-21       Impact factor: 6.741

8.  Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.

Authors:  P Rustin; J C von Kleist-Retzow; K Chantrel-Groussard; D Sidi; A Munnich; A Rötig
Journal:  Lancet       Date:  1999-08-07       Impact factor: 79.321

9.  Lack of creatine in muscle and brain in an adult with GAMT deficiency.

Authors:  Andreas Schulze; Peter Bachert; Heinz Schlemmer; Inga Harting; Tilman Polster; Gajja S Salomons; Nanda M Verhoeven; Cornelis Jakobs; Brian Fowler; Georg F Hoffmann; Ertan Mayatepek
Journal:  Ann Neurol       Date:  2003-02       Impact factor: 10.422

10.  Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.

Authors:  L Vergani; M Barile; C Angelini; A B Burlina; L Nijtmans; M P Freda; C Brizio; E Zerbetto; F Dabbeni-Sala
Journal:  Brain       Date:  1999-12       Impact factor: 13.501
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