Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
2.
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Development
; 148(11)2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106226
3.
Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.
Int J Mol Sci
; 25(2)2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256263
4.
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
Am J Hum Genet
; 107(3): 527-538, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758447
5.
Quantification of Dolichyl Phosphates Using Phosphate Methylation and Reverse-Phase Liquid Chromatography-High Resolution Mass Spectrometry.
Anal Chem
; 95(6): 3210-3217, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36716239
6.
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Mol Genet Metab
; 139(3): 107610, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37245379
7.
Additional effects of pain neuroscience education combined with physiotherapy on the headache frequency of adult patients with migraine: A randomized controlled trial.
Cephalalgia
; 43(2): 3331024221144781, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739510
8.
Smartphone-assisted training with education for patients with hip and/or knee osteoarthritis (SmArt-E): study protocol for a multicentre pragmatic randomized controlled trial.
BMC Musculoskelet Disord
; 24(1): 221, 2023 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959595
9.
Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion.
J Biol Chem
; 296: 100433, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33610554
10.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Am J Hum Genet
; 104(5): 835-846, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982613
11.
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Mol Genet Metab
; 136(4): 274-281, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35839600
12.
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).
Am J Med Genet A
; 188(1): 292-297, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34533271
13.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279850
14.
Standardized procedure prevents perioperative and early complications in totally implantable venous-access ports-a complication analysis of more than 1000 TIVAP implantations.
Langenbecks Arch Surg
; 407(8): 3755-3762, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070032
15.
Feasibility of smartphone-supported, combined physical and cognitive activities in the Neighbourhood for stimulating social participation of the elderly.
BMC Geriatr
; 22(1): 629, 2022 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907804
16.
A multifactorial interdisciplinary intervention to prevent functional and mobility decline for more participation in (pre-)frail community-dwelling older adults (PromeTheus): study protocol for a multicenter randomized controlled trial.
BMC Geriatr
; 22(1): 124, 2022 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164686
17.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
PLoS Genet
; 15(4): e1008088, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034465
18.
A new bipolar device for sealing and cutting: ex and in vivo studies for performance evaluation.
Minim Invasive Ther Allied Technol
; 31(8): 1131-1139, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260701
19.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am J Hum Genet
; 102(3): 468-479, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429572
20.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170