Kurul, Semra Hiz; Oktay, Yavuz; Topf, Ana; Szabo, Nora Zs; Gungor, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge; Lochmuller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K.; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Muller, Juliane S.; Hathazi, Denisa; Chinnery, Patrick F.; Laurie, Steven; Beltran, Sergi; Lochmueller, Hanns; Horvath, Rita

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

具有重叠临床表型的INPP5K和SIL1相关病理通过PHGDH的失调而融合

BRAIN

IF11.7

2021-04-019

OAAI

Hathazi, Denisa; Cox, Dan; D'Amico, Adele; Tasca, Giorgio; Charlton, Richard; Carlier, Robert-Yves; Baumann, Jennifer; Kollipara, Laxmikanth; Zahedi, Rene P.; Feldmann, Ingo; Deleuze, Jean-Francois; Torella, Annalaura; Cohn, Ronald; Robinson, Emily; Ricci, Francesco; Jungbluth, Heinz; Fattori, Fabiana; Boland, Anne; O'Connor, Emily; Horvath, Rita; Barresi, Rita; Lochmueller, Hanns; Urtizberea, Andoni; Jacquemont, Marie-Line; Nelson, Isabelle; Swan, Laura; Bonne, Gisele; Roos, Andreas

Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2021-03-012

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

代谢转变是可逆婴儿呼吸链缺陷恢复的基础

EMBO JOURNAL

IF8.3

2020-10-3129

OAAI

Hathazi, Denisa; Griffin, Helen; Jennings, Matthew J.; Giunta, Michele; Powell, Christopher; Pearce, Sarah F.; Munro, Benjamin; Wei, Wei; Boczonadi, Veronika; Poulton, Joanna; Pyle, Angela; Calabrese, Claudia; Gomez-Duran, Aurora; Schara, Ulrike; Pitceathly, Robert D. S.; Hanna, Michael G.; Joost, Kairit; Cotta, Ana; Paim, Julia Filardi; Navarro, Monica Machado; Duff, Jennifer; Mattmann, Andre; Chapman, Kristine; Servidei, Serenella; Della Marina, Adela; Uusimaa, Johanna; Roos, Andreas; Mootha, Vamsi; Hirano, Michio; Tulinius, Mar; Giri, Manta; Hoffmann, Eric P.; Lochmuller, Hanns; DiMauro, Salvatore; Minczuk, Michal; Chinnery, Patrick F.; Muller, Juliane S.; Horvath, Rita

Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis

FRONTIERS IN IMMUNOLOGY

IF5.9

2019-05-0920

OAAI

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

NEUROBIOLOGY OF DISEASE

IF5.6

2019-04-0111

OAAI

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice

HUMAN MOLECULAR GENETICS

IF3.2

2018-06-1422

OAAI

JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis

BRAIN

IF11.7

2018-05-08171

OAAI

The Reaction of Oxy Hemoglobin with Nitrite: Mechanism, Antioxidant-Modulated Effect, and Implications for Blood Substitute Evaluation

氧合血红蛋白与亚硝酸盐的反应: 机理，抗氧化调节作用以及对血液替代品评估的影响

MOLECULES

IF4.6

2018-02-0730

OAAI

In vivo evaluation of hemerythrin-based oxygen carriers: Similarities with hemoglobin-based counterparts

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES

IF8.5

2018-02-016

PREAI

Chlorite reactivity with myoglobin: Analogy with peroxide and nitrite chemistry?

亚氯酸盐与肌红蛋白的反应性: 与过氧化物和亚硝酸盐化学的类比？

JOURNAL OF INORGANIC BIOCHEMISTRY

IF3.2

2017-07-011

PREAI

Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-03-0154

OAAI

Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bonnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; De Goede, Christian; da Silva, Tamiris Borges; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Muller, Juliane; Kingston, Helen; Mueller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmuller, Hanns; Senderek, Jan

Associative chemosensing by fluorescent macrocycle-dye complexes - a versatile enzyme assay platform beyond indicator displacement

CHEMICAL COMMUNICATIONS

IF4.2

2015-01-0162

OAAI

Denisa Hathazi

个人简介

教育背景

工作经历

荣誉奖项

研究方向