Hayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska-Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jones, Simon A.; Morris, Andrew A.; Shakespeare, David; Christodoulou, John; Wesol-Kucharska, Dorota; Rokicki, Dariusz; Smeets, Hubert J. M.; Pronicka, Ewa; Thorburn, David R.; Gorman, Grainne S.; McFarland, Robert; Taylor, Robert W.; Ng, Yi Shiau

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2019-02-1719

OAAI

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases

METABOLIC BRAIN DISEASE

IF3.5

2018-12-208

OAAI

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-07-1956

OAAI

Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Ding Wenhong; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Haeberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-03-0147

OAAI

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

ARCHIVES OF MEDICAL SCIENCE

IF3.3

2018-01-0123

OAAI

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

患有m.9185T>C MTATP6变体的个体的Leigh综合征。过度换气是开始其发展的一个因素吗？

METABOLIC BRAIN DISEASE

IF3.5

2017-11-078

OAAI

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

CLINICA CHIMICA ACTA

IF2.9

2017-08-0114

PREAI

Rokicki, Dariusz; Pajdowska, Magdalena; Trubicka, Joanna; Meow-Keong Thong; Ciara, Elzbieta; Piekutowska-Abramczuk, Dorota; Pronicki, Maciej; Sikora, Roman; Haidar, Rijad; Oltarzewski, Mariusz; Jablonska, Ewa; Muthukumarasamy, Premala; Sthaneswar, Pavai; Gan, Chin-Seng; Krajewska-Walasek, Malgorzata; Carrozzo, Rosalba; Verrigni, Daniela; Semeraro, Michela; Rizzo, Cristiano; Taurisano, Roberta; Alhaddad, Bader; Kovacs-Nagy, Reka; Haack, Tobias B.; Dionisi-Vici, Carlo; Pronicka, Ewa; Wortmann, Saskia B.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-10-0178

OAAI

Dariusz Rokicki

个人简介

教育背景

工作经历

荣誉奖项

研究方向