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Page 1
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: meyer n. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Arlt A, et al. Among authors: meyer n. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. doi: 10.1186/s13023-021-02068-w. Orphanet J Rare Dis. 2022. PMID: 35101074 Free PMC article.
Endoplasmic reticulum-stress and unfolded protein response-activation in immune-mediated necrotizing myopathy.
Preusse C, Marteau T, Fischer N, Hentschel A, Sickmann A, Lang S, Schneider U, Schara-Schmidt U, Meyer N, Ruck T, Dengler NF, Prudlo J, Dudesek A, Görl N, Allenbach Y, Benveniste O, Goebel HH, Dittmayer C, Stenzel W, Roos A. Preusse C, et al. Among authors: meyer n. Brain Pathol. 2022 Nov;32(6):e13084. doi: 10.1111/bpa.13084. Epub 2022 Jun 15. Brain Pathol. 2022. PMID: 35703068 Free PMC article.
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.
Guettsches AK, Meyer N, Zahedi RP, Evangelista T, Muentefering T, Ruck T, Lacene E, Heute C, Gonczarowska-Jorge H, Schoser B, Krause S, Hentschel A, Vorgerd M, Roos A. Guettsches AK, et al. Among authors: meyer n. Biomedicines. 2022 Sep 30;10(10):2443. doi: 10.3390/biomedicines10102443. Biomedicines. 2022. PMID: 36289705 Free PMC article.
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. Hentschel A, et al. Among authors: meyer n. Mol Neurobiol. 2023 May;60(5):2602-2618. doi: 10.1007/s12035-023-03219-9. Epub 2023 Jan 24. Mol Neurobiol. 2023. PMID: 36692708 Free PMC article.
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A. Hentschel A, et al. Among authors: meyer n. Mol Neurobiol. 2023 Jul;60(7):4164. doi: 10.1007/s12035-023-03319-6. Mol Neurobiol. 2023. PMID: 36941504 Free PMC article. No abstract available.
SARS-CoV-2 ORF8 drives osteoclastogenesis in preexisting immune-mediated inflammatory diseases.
Melano I, Azamor T, Caetano CC, Meyer NM, Onwubueke C, Visperas A, Familiar-Macedo D, Salem GM, Soos BL, Calabrese CM, Choi YJ, Chen S, Choi Y, Wu X, Vasconcelos Z, Comhair SA, Nielsen-Saines K, Calabrese LH, Husni ME, Jung JU, Piuzzi NS, Foo SS, Chen W. Melano I, et al. Among authors: meyer nm. JCI Insight. 2024 Dec 20;9(24):e178820. doi: 10.1172/jci.insight.178820. JCI Insight. 2024. PMID: 39704167 Free PMC article.
Effectiveness, safety and reasons for discontinuation of sonidegib for patients with locally advanced basal cell carcinoma: A real-word evidence analysis from the French national registry CARADERM.
Basset-Seguin N, Djermane M, Herms F, Dalac S, Dereure O, Beylot-Barry M, Amini-Adle M, Minart B, Granel-Brocard F, Meyer N, Jouary T, Dreno B, Mortier L; Caraderm investigators. Basset-Seguin N, et al. Among authors: meyer n. J Eur Acad Dermatol Venereol. 2024 Dec 16. doi: 10.1111/jdv.20496. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 39676714 No abstract available.
1,347 results