Della Marina A - Search Results

1

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Köninger A, Iannaccone A, Hehr U, Kölbel H, Roos A, Schara-Schmidt U, Kuechler A. Paul L, et al. Among authors: della marina a. Orphanet J Rare Dis. 2020 Sep 9;15(1):242. doi: 10.1186/s13023-020-01454-0. Orphanet J Rare Dis. 2020. PMID: 32907597 Free PMC article.

2

Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.

Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U. Kölbel H, et al. Among authors: della marina a. PLoS One. 2017 Mar 9;12(3):e0173144. doi: 10.1371/journal.pone.0173144. eCollection 2017. PLoS One. 2017. PMID: 28278160 Free PMC article.

3

Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia Gravis.

Della Marina A, Kölbel H, Müllers M, Kaiser O, Ismail M, Swierzy M, Rueckert JC, Schara U. Della Marina A, et al. Neuropediatrics. 2017 Aug;48(4):315-322. doi: 10.1055/s-0037-1603775. Epub 2017 Jun 19. Neuropediatrics. 2017. PMID: 28628938 No abstract available.

4

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.

Della Marina A, Wibbeler E, Abicht A, Kölbel H, Lochmüller H, Roos A, Schara U. Della Marina A, et al. Front Hum Neurosci. 2020 Dec 7;14:560860. doi: 10.3389/fnhum.2020.560860. eCollection 2020. Front Hum Neurosci. 2020. PMID: 33364925 Free PMC article.

5

Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.

Kölbel H, Preuße C, Brand L, von Moers A, Della Marina A, Schuelke M, Roos A, Goebel HH, Schara-Schmidt U, Stenzel W. Kölbel H, et al. Among authors: della marina a. Neuropathol Appl Neurobiol. 2021 Oct;47(6):856-866. doi: 10.1111/nan.12730. Epub 2021 May 28. Neuropathol Appl Neurobiol. 2021. PMID: 33973272

6

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

Braun F, Hentschel A, Sickmann A, Marteau T, Hertel S, Förster F, Prokisch H, Wagner M, Wortmann S, Della Marina A, Kölbel H, Roos A, Schara-Schmidt U. Braun F, et al. Among authors: della marina a. Int J Mol Sci. 2021 Jul 22;22(15):7835. doi: 10.3390/ijms22157835. Int J Mol Sci. 2021. PMID: 34360601 Free PMC article.

7

MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.

Khuller K, Yigit G, Martínez Grijalva C, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A. Khuller K, et al. Among authors: della marina a. Eur J Med Genet. 2021 Oct;64(10):104310. doi: 10.1016/j.ejmg.2021.104310. Epub 2021 Aug 13. Eur J Med Genet. 2021. PMID: 34400370

8

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy.

Della Marina A, Pawlitzki M, Ruck T, van Baalen A, Vogt N, Schweiger B, Hertel S, Kölbel H, Wiendl H, Preuße C, Roos A, Schara-Schmidt U. Della Marina A, et al. Children (Basel). 2021 Aug 24;8(9):721. doi: 10.3390/children8090721. Children (Basel). 2021. PMID: 34572153 Free PMC article.

9

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.

Della Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuß A, Kölbel H, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A, Roos A. Della Marina A, et al. Cells. 2021 Dec 9;10(12):3481. doi: 10.3390/cells10123481. Cells. 2021. PMID: 34943989 Free PMC article.

10

Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.

Gangfuß A, Hentschel A, Rademacher N, Sickmann A, Stüve B, Horvath R, Gross C, Kohlschmidt N, Förster F, Abicht A, Schänzer A, Schara-Schmidt U, Roos A, Della Marina A. Gangfuß A, et al. Among authors: della marina a. Hum Mutat. 2022 Apr;43(4):477-486. doi: 10.1002/humu.24338. Epub 2022 Feb 16. Hum Mutat. 2022. PMID: 35112411

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