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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 1967, doi. 10.1093/brain/awae057
By:
- Blickhäuser, Beryll;
- Stenton, Sarah L;
- Neuhofer, Christiane M;
- Floride, Elisa;
- Nesbitt, Victoria;
- Fratter, Carl;
- Koch, Johannes;
- Kauffmann, Birgit;
- Catarino, Claudia;
- Schlieben, Lea Dewi;
- Kopajtich, Robert;
- Carelli, Valerio;
- Sadun, Alfredo A;
- McFarland, Robert;
- Fang, Fang;
- Morgia, Chiara La;
- Paquay, Stéphanie;
- Nassogne, Marie Cécile;
- Ghezzi, Daniele;
- Lamperti, Costanza
Publication type:
Article
phenotypic spectrum of COX20-associated mitochondrial disorder.
Published in:
Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. e125, doi. 10.1093/brain/awac344
By:
- Ban, Rui;
- Kopajtich, Robert;
- Lv, Junlan;
- Stenton, Sarah L;
- Shimura, Masaru;
- Wang, Zhaoxia;
- Yuan, Yun;
- Wang, Junling;
- Han, Xiaodi;
- Liu, Zhimei;
- Shi, Qiang;
- Pu, Chuanqiang;
- Prokisch, Holger;
- Fang, Fang;
- Elstner, Matthias
Publication type:
Article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Published in:
2022
By:
- Stenton, Sarah L.;
- Tesarova, Marketa;
- Sheremet, Natalia L.;
- Catarino, Claudia B.;
- Carelli, Valerio;
- Ciara, Elżbieta;
- Curry, Kathryn;
- Engvall, Martin;
- Fleming, Leah R.;
- Freisinger, Peter;
- Iwanicka-Pronicka, Katarzyna;
- Jurkiewicz, Elżbieta;
- Klopstock, Thomas;
- Koenig, Mary K.;
- Kolářová, Hana;
- Kousal, Bohdan;
- Krylova, Tatiana;
- Morgia, Chiara La;
- Nosková, Lenka;
- Piekutowska-Abramczuk, Dorota
Publication type:
journal article
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Published in:
2020
By:
- Zhou, Ji;
- Li, Jiuwei;
- Stenton, Sarah L;
- Ren, Xiaotun;
- Gong, Shuai;
- Fang, Fang;
- Prokisch, Holger
Publication type:
Letter
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Published in:
2019
By:
- Esposito, Alessandro;
- Falace, Antonio;
- Wagner, Matias;
- Gal, Moran;
- Mei, Davide;
- Conti, Valerio;
- Pisano, Tiziana;
- Aprile, Davide;
- Cerullo, Maria Sabina;
- Fusco, Antonio De;
- Giovedì, Silvia;
- Seibt, Annette;
- Magen, Daniella;
- Polster, Tilman;
- Eran, Ayelet;
- Stenton, Sarah L;
- Fiorillo, Chiara;
- Ravid, Sarit;
- Mayatepek, Ertan;
- Hafner, Hava
Publication type:
journal article
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
Published in:
Journal of Pathology, 2021, v. 254, n. 4, p. 430, doi. 10.1002/path.5641
By:
- Alston, Charlotte L.;
- Stenton, Sarah L.;
- Hudson, Gavin;
- Prokisch, Holger;
- Taylor, Robert W.
Publication type:
Article
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines.
Published in:
Journal of Pathology, 2021, v. 254, n. 3, p. 430, doi. 10.1002/path.5641
By:
- Alston, Charlotte L;
- Stenton, Sarah L;
- Hudson, Gavin;
- Prokisch, Holger;
- Taylor, Robert W
Publication type:
Article
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Published in:
Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00604-w
By:
- Stenton, Sarah L.;
- O'Leary, Melanie C.;
- Lemire, Gabrielle;
- VanNoy, Grace E.;
- DiTroia, Stephanie;
- Ganesh, Vijay S.;
- Groopman, Emily;
- O'Heir, Emily;
- Mangilog, Brian;
- Osei-Owusu, Ikeoluwa;
- Pais, Lynn S.;
- Serrano, Jillian;
- Singer-Berk, Moriel;
- Weisburd, Ben;
- Wilson, Michael W.;
- Austin-Tse, Christina;
- Abdelhakim, Marwa;
- Althagafi, Azza;
- Babbi, Giulia;
- Bellazzi, Riccardo
Publication type:
Article
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency.
Published in:
Frontiers in Pharmacology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.608737
By:
- Zhou, Ling;
- Deng, Jie;
- Stenton, Sarah L.;
- Zhou, Ji;
- Li, Hua;
- Chen, Chunhong;
- Prokisch, Holger;
- Fang, Fang
Publication type:
Article
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Published in:
2021
By:
- Stenton, Sarah L.;
- Sheremet, Natalia L.;
- Catarino, Claudia B.;
- Andreeva, Natalia A.;
- Assouline, Zahra;
- Barboni, Piero;
- Barel, Ortal;
- Berutti, Riccardo;
- Bychkov, Igor;
- Caporali, Leonardo;
- Capristo, Mariantonietta;
- Carbonelli, Michele;
- Cascavilla, Maria L.;
- Issa, Peter Charbel;
- Freisinger, Peter;
- Gerber, Sylvie;
- Ghezzi, Daniele;
- Graf, Elisabeth;
- Heidler, Juliana;
- Hempel, Maja
Publication type:
journal article
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Published in:
Annals of Neurology, 2022, v. 91, n. 4, p. 466, doi. 10.1002/ana.26313
By:
- Stenton, Sarah L.;
- Zou, Ying;
- Cheng, Hua;
- Liu, Zhimei;
- Wang, Junling;
- Shen, Danmin;
- Jin, Hong;
- Ding, Changhong;
- Tang, Xiaolu;
- Sun, Suzhen;
- Han, Hong;
- Ma, Yanli;
- Zhang, Weihua;
- Jin, Ruifeng;
- Wang, Hua;
- Sun, Dan;
- Lv, Jun Lan;
- Prokisch, Holger;
- Fang, Fang
Publication type:
Article
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Published in:
2021
By:
- Stenton, Sarah L.;
- Zou, Ying;
- Cheng, Hua;
- Prokisch, Holger;
- Fang, Fang
Publication type:
Letter
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients.
Published in:
Journal of Neurology, 2024, v. 271, n. 7, p. 4685, doi. 10.1007/s00415-024-12447-5
By:
- Indelicato, Elisabetta;
- Schlieben, Lea D.;
- Stenton, Sarah L.;
- Boesch, Sylvia;
- Skorvanek, Matej;
- Necpal, Jan;
- Jech, Robert;
- Winkelmann, Juliane;
- Prokisch, Holger;
- Zech, Michael
Publication type:
Article
The diagnosis of inborn errors of metabolism by an integrative "multi‐omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 25, doi. 10.1002/jimd.12130
By:
- Stenton, Sarah L.;
- Kremer, Laura S.;
- Kopajtich, Robert;
- Ludwig, Christina;
- Prokisch, Holger
Publication type:
Article
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 310, doi. 10.1002/humu.24160
By:
- Stenton, Sarah L.;
- Piekutowska‐Abramczuk, Dorota;
- Kulterer, Lea;
- Kopajtich, Robert;
- Claeys, Kristl G.;
- Ciara, Elżbieta;
- Eisen, Johannes;
- Płoski, Rafał;
- Pronicka, Ewa;
- Malczyk, Katarzyna;
- Wagner, Matias;
- Wortmann, Saskia B.;
- Prokisch, Holger
Publication type:
Article

Found: 15