Project relevant publications

Kleefeld F, Hentschel A, von Moers A, Hahn K, Horvath R, Goebel HH, Preusse C, Schallner J, Schuelke M*, Roos A*, Werner Stenzel*. Beyond vacuolar pathology: Multi-omic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis. Neuropathol Appl Neurobiol. 2023 Jun 16;e12920. Online ahead of print. [doi: 10.1111/nan.12920; PMID: 37328427].

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*. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. Brain. 2023 May 10;awad152. Online ahead of print. [doi: 10.1093/brain/awad152; PMID: 37163662]. 

Unger A*, Roos A*, Gangfuß A, Hentschel A, Gläser D, Krause K, Doering K, Schara-Schmidt U, Hoffjan S, Vorgerd M, Güttsches AK. Microscopic and biochemical hallmarks of BICD2-associated muscle pathology toward the evaluation of novel variants. Int. J. Mol. Sci. 2023 Apr 6;24(7), 6808. [doi: 10.3390/ijms24076808; PMID: 37047781]

Phan V, Hathazi D, Preuße C, Czech A, Freier E, Shema G, Zahedi RP, Roos A. Molecular mechanisms in chloroquine-exposed muscle cells elucidated by combined proteomic and microscopic studies. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12877. [doi: 10.1111/nan.12877; PMID: 36633103]

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. A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023 Mar 21. [doi: 10.1007/s12035-023-03319-6; PMID: 36941504]

Christiansen J, Güttsches AK, Schara-Schmidt U, Vorgerd M, Heute C, Preusse C, Stenzel W, Roos A. ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies. Genes Dis. 2022 Feb 14;9(6):1506-1520. [doi: 10.1016/j.gendis.2022.01.001. eCollection 2022 Nov. PMID: 36157496]

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. FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology. Biomedicines. 2022 Sep 30;10(10):2443. [doi: 10.3390/biomedicines10102443; PMID: 36289705]

Preuße C, Paesler B, Nelke C, Cengiz D, Müntefering T, Roos A, Amelin D, Allenbach Y, Uruha A, Dittmayer C, Hentschel A, Pawlitzki M, Hoffmann S, Timm S, Louis SL, Dengler NF, Wiendl H, Lünemann JD, Sickmann A, Hervier B, Meuth SG, Schneider U, Schänzer A, Krause S, Tomaras S, Feist E, Hasseli R, Goebel HH, Gallay L, Streichenberger N, Benveniste O, Stenzel W, Ruck T. Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis. Acta Neuropathol. 2022 Aug 144(2):353-372. [doi: 10.1007/s00401-022-02438-z; PMID: 35612662]

Gangfuß A, Hentschel A, Heil L, Gonzalez M, Schönecker A, Depienne C, Nishimura A, Zengeler D, Kohlschmidt N, Sickmann A, Schara-Schmidt U, Fürst DO, van der Ven PFM, Hahn A, Roos A, Schänzer A. Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). Mol Genet Metab. 2022 Jul 136(3):226-237. [doi: 10.1016/j.ymgme.2022.05.005; PMID: 35660068]

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. Endoplasmic reticulum-stress and unfolded protein response-activation in immune-mediated necrotizing myopathy. Brain Pathol. 2022 Jun 15:e13084. [doi: 10.1111/bpa.13084; PMID: 35703068]

Kölbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, Nguyen C, Stenzel W, Schara-Schmidt U, Preuße C, Roos A. New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. Genes (Basel). 2022 May 13(5):893. [doi: 10.3390/genes13050893; PMID: 35627278]

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. Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease. Hum Mutat. 2022 Apr 43(4):477-486. [doi: 10.1002/humu.24338; PMID: 35112411]

Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. Brain. 2022 Feb 10:awac055. [doi: 10.1093/brain/awac055; PMID: 35148379]

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*. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet J Rare Dis. 2022 Jan 17(1):29. [doi: 10.1186/s13023-021-02068-w; PMID: 35101074]

Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A. Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. J Pathol. 2022 Jan 256(1):93-107. [doi: 10.1002/path.5812; PMID: 34599609]

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. Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3. Cells. 2021 Dec 10(12):3481. [doi: 10.3390/cells10123481; PMID: 34943989]

Gangfuss A, Schara-Schmidt U, Roos A. Genomik und Proteomik in der Erforschung neuromuskulärer Erkrankungen. Nervenarzt. 2021 Oct 7. [doi: 10.1007/s00115-021-01201-1; PMID: 34622318]

Kölbel H, Preusse C, Brand L, van Moers A, Della marina A, Schuelke M, Roos A, Goebel HH, Schara-Schmidt U, Stenzel W. Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages. Neuropathol Appl Neurobiol. 2021 Oct;47(6):856-866. [doi: 10.1111/nan.12730; PMID: 33973272]

Töpf A, Pyle A, Griffin H, Matalonga L, Schon K, Solve RD SNV indel working group, Solve-RD DITF-euroNMD, Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A*, Horvath R.*. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021 Sep;29(9):1348-1353. [doi: 10.1038/s41431-021-00851-8; PMID: 34075209]

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. Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS. Int J Mol Sci. 2021 Jul 22;22(15):7835. [doi: 10.3390/ijms22157835; PMID: 34360601]

Hentschel A, Czech A, Münchberg U, Freier E, Reimann J, Roos A. Protein Signature of Human Skin Fibroblasts Allows the Study of the Molecular Etiology of Rare Neurological Diseases. Orphanet J Rare Dis. 2021 Feb 9;16(1):73. [doi: 10.1186/s13023-020-01669-1; PMID: 33563298]

Kohlschmidt N, Elbracht M, Czech A, Häusler M, Phan V, Töpf A, Huang KT, Bartok A, Eggermann K, Zippel S, Eggermann T, Freier E, Groß C, Lochmüller H, Horvath R, Hajnóczky G, Weis J, Roos A. Molecular pathophysiology of human MICU1-deficiency. Neuropathol Appl Neurobiol. 2020. Online ahead of print. [doi: 10.1111/nan.12694; PMID: 33428302]

Kölbel H, Roos A, van der Ven P F M, Evangelista T, Nolte K, Johnson K, Töpf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Fürst D O, Schara U. First Clinical and Myopathological Description of a Myofibrillar Myopathy With Congenital Onset and Homozygous Mutation in FLNC. Hum Mutat. 2020 Jun 9. Online ahead of print. [doi: 10.1002/humu.24062; PMID: 32516863]