258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Author:

Diodato Daria,Schiff Manuel,Cohen Bruce H.,Bertini Enrico,Rahman Shamima,Bertini Enrico,Cohen Bruce H.,Rahman Shamima,Schiff Manuel,Ardissone Anna,Bertini Enrico,Christodoulou John,Cohen Bruce H.,Falk Marni,Goldstein Amy,Haas Richard,Horvath Rita,McFarland Robert,Murayama Kei,Osaka Hitoshi,Prigione Alessandro,Prokisch Holger,Rahman Shamima,Rötig Agnès,Schiff Manuel,Schuelke Markus,Suomalainen-Waartiovara Anu,Thorburn David,Zeman Jiri,Zolkipli-Cunningham Zarazuela,Diodato Daria,Pällijeff Pieti,Pennisi Alessandra,Klein Matthew,Maguire Alison,Waller Katie,Amanda ,Wylie Faye,Yeske Philip

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference38 articles.

1. GeneReviews®. seattle (WA);Rahman,2015

2. Leigh syndrome: clinical features and biochemical and DNA abnormalities;Rahman;Ann Neurol,1996

3. A multicenter study on Leigh syndrome: disease course and predictors of survival;Sofou;Orphanet J Rare Dis,2014

4. Thorburn D.R., Rahman J., Rahman S. Mitochondrial DNA-Associated Leigh Syndrome and NARP. 2003 Oct 30 [updated 2017 Sep 28]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.

5. Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy';Fryer;Arch Dis Child,1994

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