受强制性开放获取政策约束的文章 - Denisa Hathazi了解详情
无法在其他位置公开访问的文章:2 篇
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1
CDL Nguyen, AC Jimenez-Moreno, M Merker, CJ Bowers, N Nikolenko, ...
Journal of Neurology 270 (6), 3138-3158, 2023
强制性开放获取政策: Canadian Institutes of Health Research, Natural Sciences and Engineering …
Molecular mechanisms in chloroquine‐exposed muscle cells elucidated by combined proteomic and microscopic studies
V Phan, D Hathazi, C Preuße, A Czech, E Freier, G Shema, RP Zahedi, ...
Neuropathology and Applied Neurobiology 49 (1), e12877, 2023
强制性开放获取政策: German Research Foundation
可在其他位置公开访问的文章:22 篇
JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis
L Ladislau, X Suárez-Calvet, S Toquet, O Landon-Cardinal, D Amelin, ...
Brain 141 (6), 1609-1621, 2018
强制性开放获取政策: National Institute of Health and Medical Research, France, Government of Spain
Associative chemosensing by fluorescent macrocycle–dye complexes–a versatile enzyme assay platform beyond indicator displacement
F Biedermann, D Hathazi, WM Nau
Chemical Communications 51 (24), 4977-4980, 2015
强制性开放获取政策: German Research Foundation
Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment
M Wiessner, A Roos, CJ Munn, R Viswanathan, T Whyte, D Cox, ...
The American Journal of Human Genetics 100 (3), 523-536, 2017
强制性开放获取政策: UK Medical Research Council, National Institute for Health Research, UK …
Clinical presentation and proteomic signature of patients with TANGO2 mutations
N Mingirulli, A Pyle, D Hathazi, CL Alston, N Kohlschmidt, G O'Grady, ...
Journal of Inherited Metabolic Disease 43 (2), 297-308, 2020
强制性开放获取政策: Canadian Institutes of Health Research, UK Engineering and Physical Sciences …
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
D Hathazi, H Griffin, MJ Jennings, M Giunta, C Powell, SF Pearce, ...
The EMBO journal 39 (23), e105364, 2020
强制性开放获取政策: Canadian Institutes of Health Research, UK Medical Research Council …
The reaction of oxy hemoglobin with nitrite: Mechanism, antioxidant-modulated effect, and implications for blood substitute evaluation
D Hathazi, F Scurtu, C Bischin, A Mot, AAA Attia, J Kongsted, ...
Molecules 23 (2), 350, 2018
强制性开放获取政策: Danish Council for Independent Research
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
MJ Jennings, A Kagiava, L Vendredy, EL Spaulding, M Stavrou, ...
Brain 145 (11), 3999-4015, 2022
强制性开放获取政策: US National Institutes of Health, Research Foundation (Flanders), Canadian …
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
Y Issop, D Hathazi, MM Khan, R Rudolf, J Weis, S Spendiff, CR Slater, ...
Human molecular genetics 27 (18), 3218-3232, 2018
强制性开放获取政策: UK Medical Research Council, Wellcome Trust, Federal Ministry of Education …
Biochemical and pathological changes result from mutated Caveolin-3 in muscle
JA González Coraspe, J Weis, ME Anderson, U Münchberg, K Lorenz, ...
Skeletal muscle 8, 1-19, 2018
强制性开放获取政策: US National Institutes of Health, Howard Hughes Medical Institute, Federal …
Proteomic profiling unravels a key role of specific macrophage subtypes in sporadic inclusion body myositis
A Roos, C Preusse, D Hathazi, HH Goebel, W Stenzel
Frontiers in Immunology 10, 1040, 2019
强制性开放获取政策: Federal Ministry of Education and Research, Germany
Identification of candidate protein markers in skeletal muscle of laminin-211-deficient CMD type 1A-patients
H Kölbel, D Hathazi, M Jennings, R Horvath, A Roos, U Schara
Frontiers in Neurology 10, 470, 2019
强制性开放获取政策: Fondazione Telethon, Italy, Federal Ministry of Education and Research, Germany
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
S Hiz Kurul, Y Oktay, A Töpf, NZ Szabó, S Güngör, A Yaramis, ...
Brain 145 (4), 1507-1518, 2022
强制性开放获取政策: US National Institutes of Health, Canadian Institutes of Health Research …
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3
MJ Jennings, D Hathazi, CDL Nguyen, B Munro, U Münchberg, ...
Frontiers in Cell and Developmental Biology 9, 710247, 2021
强制性开放获取政策: Fondazione Telethon, Italy, UK Medical Research Council, Wellcome Trust …
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome
L Kollipara, S Buchkremer, JAG Coraspe, D Hathazi, J Senderek, J Weis, ...
Oncotarget 8 (40), 68493, 2017
强制性开放获取政策: German Research Foundation
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human
V Phan, D Cox, S Cipriani, S Spendiff, S Buchkremer, E O'Connor, ...
Neurobiology of Disease 124, 218-229, 2019
强制性开放获取政策: UK Medical Research Council, Federal Ministry of Education and Research, Germany
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
D Hathazi, D Cox, A d'Amico, G Tasca, R Charlton, RY Carlier, ...
Brain 144 (8), 2427-2442, 2021
强制性开放获取政策: Canadian Institutes of Health Research, Natural Sciences and Engineering …
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease
S Gungor, Y Oktay, S Hiz, Á Aranguren-Ibáñez, I Kalafatcilar, A Yaramis, ...
Iscience 24 (1), 2021
强制性开放获取政策: US National Institutes of Health, Canadian Institutes of Health Research …
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
F Kleefeld, R Horvath, I Pinal-Fernandez, AL Mammen, ...
Acta Neuropathologica 147 (1), 19, 2024
强制性开放获取政策: UK Medical Research Council
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