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Items: 1 to 20 of 69


Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.

O'Connor E, Cairns G, Spendiff S, Burns D, Hettwer S, Mäder A, Müller J, Horvath R, Slater C, Roos A, Lochmüller H.

Cells. 2019 Aug 7;8(8). pii: E848. doi: 10.3390/cells8080848.


Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Nadja M, Angela P, Denisa H, Charlotte L A, Nicolai K, Gina O, Leigh W, Frances E, Sandra B T C, Christian T, Jennifer D, Ana T, Delia Y, Cristina J, Andrés N, Carlos O, Angels GC, Claudia G, Maria O, Saikat S, Maryanne A P, Michael C, Sergei K, Efsthatia C, Majumdar A, Germaine P, Daniel M, Kyle T, Placido N, Antonia R, Frederic T, Agatha S, Aurora P, Raquel M, Georgia S, Hanns L, Cecilia JM, Robert W T, Rafael A, Janbernd K, Sarah C G, Andreas R, Rita H.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]


Acute versus chronic myocardial injury and long-term outcomes.

Kadesjö E, Roos A, Siddiqui A, Desta L, Lundbäck M, Holzmann MJ.

Heart. 2019 Jul 23. pii: heartjnl-2019-315036. doi: 10.1136/heartjnl-2019-315036. [Epub ahead of print]


Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.

Gatz C, Hathazi D, Münchberg U, Buchkremer S, Labisch T, Munro B, Horvath R, Töpf A, Weis J, Roos A.

Front Neurol. 2019 Jun 14;10:562. doi: 10.3389/fneur.2019.00562. eCollection 2019.


Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis.

Roos A, Preusse C, Hathazi D, Goebel HH, Stenzel W.

Front Immunol. 2019 May 9;10:1040. doi: 10.3389/fimmu.2019.01040. eCollection 2019.


Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.

Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U.

Front Neurol. 2019 May 7;10:470. doi: 10.3389/fneur.2019.00470. eCollection 2019.


Proteome-wide detection of S-nitrosylation targets and motifs using bioorthogonal cleavable-linker-based enrichment and switch technique.

Mnatsakanyan R, Markoutsa S, Walbrunn K, Roos A, Verhelst SHL, Zahedi RP.

Nat Commun. 2019 May 16;10(1):2195. doi: 10.1038/s41467-019-10182-4.


237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018.

Pogoryelova O, Urtizberea JA, Argov Z, Nishino I, Lochmüller H; ENMC workshop study group.

Neuromuscul Disord. 2019 May;29(5):401-410. doi: 10.1016/j.nmd.2019.02.010. Epub 2019 Mar 2. No abstract available.


Chronic Myocardial Injury and Risk for Stroke.

Rydén L, Roos A, Holzmann MJ.

Am J Med. 2019 Jul;132(7):833-839. doi: 10.1016/j.amjmed.2019.01.027. Epub 2019 Feb 2.


Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Cipriani S, Phan V, Médard JJ, Horvath R, Lochmüller H, Chrast R, Roos A, Spendiff S.

Int J Mol Sci. 2018 Dec 17;19(12). pii: E4072. doi: 10.3390/ijms19124072.


SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.

Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A.

Neurobiol Dis. 2019 Apr;124:218-229. doi: 10.1016/j.nbd.2018.11.019. Epub 2018 Nov 20.


234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017.

Weihl CC, Udd B, Hanna M; ENMC workshop study group.

Neuromuscul Disord. 2018 Dec;28(12):1022-1030. doi: 10.1016/j.nmd.2018.09.004. Epub 2018 Sep 25. No abstract available.


Nanoscopic structures and molecular interactions leading to a dystectic and two eutectic points in [EMIm][Cl]/urea mixtures.

Cerajewski U, Träger J, Henkel S, Roos AH, Brehm M, Hinderberger D.

Phys Chem Chem Phys. 2018 Dec 5;20(47):29591-29600. doi: 10.1039/c8cp04912b.


Relation of Chronic Myocardial Injury and Non-ST-Segment Elevation Myocardial Infarction to Mortality.

Roos A, Sartipy U, Ljung R, Holzmann MJ.

Am J Cardiol. 2018 Dec 15;122(12):1989-1995. doi: 10.1016/j.amjcard.2018.09.006. Epub 2018 Sep 15.


Laboratory biomarkers of delayed cerebral ischemia after subarachnoid hemorrhage: a systematic review.

Jabbarli R, Pierscianek D, Darkwah Oppong M, Sato T, Dammann P, Wrede KH, Kaier K, Köhrmann M, Forsting M, Kleinschnitz C, Roos A, Sure U.

Neurosurg Rev. 2018 Oct 10. doi: 10.1007/s10143-018-1037-y. [Epub ahead of print] Review.


Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD.

Coenen-Stass AML, Sork H, Gatto S, Godfrey C, Bhomra A, Krjutškov K, Hart JR, Westholm JO, O'Donovan L, Roos A, Lochmüller H, Puri PL, El Andaloussi S, Wood MJA, Roberts TC.

Mol Ther Nucleic Acids. 2018 Dec 7;13:1-15. doi: 10.1016/j.omtn.2018.08.005. Epub 2018 Aug 17.


Biochemical and pathological changes result from mutated Caveolin-3 in muscle.

González Coraspe JA, Weis J, Anderson ME, Münchberg U, Lorenz K, Buchkremer S, Carr S, Zahedi RP, Brauers E, Michels H, Sunada Y, Lochmüller H, Campbell KP, Freier E, Hathazi D, Roos A.

Skelet Muscle. 2018 Aug 28;8(1):28. doi: 10.1186/s13395-018-0173-y.


Characterization of Naïve and Vitamin C-Treated Mouse Schwann Cell Line MSC80: Induction of the Antioxidative Thioredoxin Related Transmembrane Protein 1.

Phan V, Schmidt J, Matyash V, Malchow S, Thanisch M, Lorenz C, Diepolder I, Schulz JB, Stenzel W, Roos A, Gess B.

J Proteome Res. 2018 Sep 7;17(9):2925-2936. doi: 10.1021/acs.jproteome.8b00022. Epub 2018 Aug 10.


GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H.

Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225.


FYCO1 mediates clearance of α-synuclein aggregates through a Rab7-dependent mechanism.

Saridaki T, Nippold M, Dinter E, Roos A, Diederichs L, Fensky L, Schulz JB, Falkenburger BH.

J Neurochem. 2018 Aug;146(4):474-492. doi: 10.1111/jnc.14461. Epub 2018 Jul 23.

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