MD-NET - Network for Muscular Dystrophy
MD-NET is an interdisciplinary network with the intention of bringing together experts from different areas of research to collaborate on the epidemiology, diagnosis, molecular pathogenesis and treatment of muscular dystrophy. It comprises participants from Neurology, Pediatric Neurology, Neuropathology, Human Genetics, Internal Medicine, Physiology, Developmental Biology, Molecular Pathology, Cell Biology, and Biochemistry.
The MD-NET collaborators represent experts for nearly all forms of muscular dystrophy. Since the start of the MD-NET in 2003, the interactions between the research projects and the service structures have constantly increased. MD-NET was established as a ‚non-profit association’ – MD-NET e.V. – in 2006, giving the MD-NET the opportunity to act on a European-wide basis, and to become an equal partner of TREAT-NMD. TREAT-NMD (Assessment and Treatment of Neuromuscular Diseases, www.treat-nmd.eu) is a Network of Excellence funded within the 6th Framework Program of the European Commission.
MD-NET leads the activities on harmonized European patient databases, biobanks and the Clinical Trial Coordination Centre. Major focus of the is on registering German muscular dystrophy patients to ensure trial readiness, the translation of research results into clinical trials and the transfer of results such as “standards of care” to the majority of muscular dystrophy patients in Germany. Moreover, the MD-NET will implement and disseminate results to professionals, patient organizations and the wider public, and collaborate with other partners and networks of rare disorders to ensure sustainability of the MD-NET. The ultimate goal is providing better diagnosis, treatment and care for all muscular dystrophy patients in Germany.
Projects- Entwicklung von AON – Identifizierung der in situ und in vivo Gewebeverteilung von Antisense Oligonukleotiden in der mdx-Maus (Prof. V. Straub, Newcastle, UK)
- Dysregulierte microRNAs – Potentielle therapeutische Ansätze zur Behandlung von Muskeldystrophien (Dr. C. Thirion, München)
- Präventive Therapie bei DMD – Kardiomyopathie-Präventionsstudie bei Muskeldystrophie Duchenne (Prof. J. Kirschner, Koordinationszentrum Klinische Studien, Freiburg)
- Caveolinopathie-Diagnostik – Studien zur Pathogenese der Myopathien aufgrund von Caveolin-3-Mutationen (Prof. J. Weis, PD Dr. Alexander Krüttgen, Aachen)
- Z-Scheiben-assoziierte Myopathien – Filamin-assoziierte Proteine bei Muskelerkrankungen und Remodelling (Dr. D. Fürst und Dr. P. van der Ven, Bonn, Prof. M. Vorgerd und Prof. R. A. Kley, Bochum)
- Modelle für humane Desminopathien – Charakterisierung der Skelettmuskelpathologie bei der R350P Desmin knock-in Maus: ein Modell für humane Desminopathien (Prof. Dr. R. Schröder; Erlangen und Prof. C. Clemen, Köln)
- Muskelbank – Muscle Tissue Culture Collection (MTCC) (PD Dr. A. Abicht, Dr. P. Schneiderat, München)
- Zentrale Einheit zur Sequenzierung von Genen für neuromuskuläre Erkrankungen (Prof. C. R. Müller-Reible, Würzburg, Dr. G. Dekomien, Bochum)
- Mikrosatellitenanalysen als ökonomische Strategie für die Differentialdiagnostik myogener neuromuskulärer Erkrankungen (Prof. A. Hübner und Prof. M. von der Hagen, Dresden)
- Netzwerkzentrale und Patientenregister für seltene neuromuskuläre Erkrankungen (Prof. M. Walter, München)
Patientenregister
In enger Kooperation mit dem europäischen Partner TREAT-NMD (www.treat-nmd.eu) betreut das MD-NET gemeinsam mit den Selbsthilfegruppen benni & co und der Initiative Forschung und Therapie für SMA den Aufbau und die Koordination europaweit harmonisierter Patientenregister. Bisher stehen folgende Patientenregister für Spinale Muskelatrophie (SMA), Muskeldystrophie Duchenne und Becker (DMD/BMD), FRRPopathien (MDC1C/LGMD2I) und Myotone Dystrophien (DM1, DM2) zur Verfügung:
- SMA-Patientenregister (www.sma-register.de)
- DMD/BMD-Patientenregister (www.dmd-register.de)
- FRKP-Patientenregister (www.fkrp-registry.org)
- DM-Patientenregister (www.dm-registry.org)
Prof. Dr. med. Maggie Walter, M.A.
Prof. Dr. med. Matthias Vorgerd
Prof. Dr. med. Janbernd Kirschner
Friedrich-Baur-Institut
Klinikum der LMU München
Ziemssenstr. 1
80336 München
Tel.: +48 89 4400 57478
Fax: +49 89 4400 57402
E-Mail: info@md-net.org
Website: www.md-net.org
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6. March 2017 (MD-Net)
Differential roles of α-, β-, and γ-actin in axon growth and collateral branch formation in motoneurons.Moradi M, Sivadasan R, Saal L, Lüningschrör P, Dombert B, Rathod RJ, Dieterich DC, Blum R, Sendtner M.
J Cell Biol. 2017 Mar 6;216(3):793-814. doi: 10.1083/jcb.201604117. Epub 2017 Feb 28.
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27. January 2017 (GeramyMD-Net)
Epigallocatechin-3-gallate preferentially induces aggregation of amyloidogenic immunoglobulin light chainsSci Rep. 2017 Jan 27;7:41515
Manuel Hora, Martin Carballo-Pacheco, Benedikt Weber, Vanessa K. Morris, Antje Wittkopf, Johannes Buchner, Birgit Strodel & Bernd Reif -
28. December 2016 (GeramyMD-Net)
Aggregation of Full Length Immunoglobulin Light Chains from AL Amyloidosis Patients Is Remodeled by Epigallocatechin-3-gallateJ Biol Chem. 2016 Dec 28. pii: jbc.M116.750323
Andrich K, Hegenbart U, Kimmich C, Kedia N, Bergen HR 3rd, Schönland S, Wanker EE, Bieschke J. -
19. December 2016 (AID-NetMD-Net)
In neonates S100A8/S100A9 alarmins prevent the expansion of a specific inflammatory monocyte population promoting septic shockFASEB J. 2016 Dec 19. pii: fj.201601083R. [Epub ahead of print] Heinemann AS, Pirr S, Fehlhaber B, Mellinger L, Burgmann J, Busse M, Ginzel M, Friesenhagen J, von Köckritz-Blickwede M, Ulas T, von Kaisenberg CS, Roth J, Vogl T, Viemann D.
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14. December 2016 (MD-NetPID-Net)
Gene Insertion Into Genomic Safe Harbors for Human Gene TherapyMol Ther. 2016 Dec 14;24(4):678-84. doi: 10.1038/mt.2016.38. Review.
Papapetrou EP, Schambach A. -
28. November 2016 (CMT-netMD-Net)
Towards a functional pathology of hereditary neuropathiesActa Neuropathol. 2016 Nov 28. [Epub ahead of print] Review.
Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J. -
23. November 2016 (CMT-netMD-Net)
Changes of bivalent chromatin coincide with increased expression of developmental genes in cancerSci Rep. 2016 Nov 23;6:37393.
Bernhart SH, Kretzmer H, Holdt LM, Jühling F, Ammerpohl O, Bergmann AK, Northoff BH, Doose G, Siebert R, Stadler PF, Hoffmann S. -
15. November 2016 (MD-NetMND-net)
The concept and diagnostic criteria of primary lateral sclerosisActa Neurol Scand. 2016 Nov 15. doi: 10.1111/ane.12713. [Epub ahead of print] Wais V, Rosenbohm A, Petri S, Kollewe K, Hermann A, Storch A, Hanisch F, Zierz S, Nagel G, Kassubek J, Weydt P, Brettschneider J, Weishaupt JH, Ludolph AC, Dorst J.
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14. November 2016 (MD-NetSTOP-FSGS)
A Novel Assay to Assess the Effect of Pharmaceutical Compounds on the Differentiation of PodocytesBr J Pharmacol. 2016 Nov 14. doi: 10.1111/bph.13667. [Epub ahead of print] Kindt F, Hammer E, Kemnitz S, Blumenthal A, Klemm P, Schlüter R, Quaggin SE, van den Brandt J, Fuellen G, Völker U, Endlich K, Endlich N.
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5. November 2016 (MD-NetMND-net)
Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-netAmyotroph Lateral Scler Frontotemporal Degener. 2016 Nov 5:1-8. [Epub ahead of print] Steinacker P, Huss A, Mayer B, Grehl T, Grosskreutz J, Borck G, Kuhle J, Lulé D, Meyer T, Oeckl P, Petri S, Weishaupt J, Ludolph AC, Otto M.
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14. October 2016 (MD-Net)
The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysisProteomics Clin Appl. 2016 Oct 14. doi: 10.1002/prca.201600007. [Epub ahead of print] Brauers E, Roos A, Kollipara L, Zahedi RP, Beckmann A, Mohanadas N, Bauer H, Häusler M, Thoma S, Kress W, Senderek J, Weis J.
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1. October 2016 (AID-NetMD-Net)
Serum cell death biomarker mirrors liver cancer regression after transarterial chemoembolisationAliment Pharmacol Ther. 2016; 44(7):747-54
Bock B, Hasdemir D, Wandrer F, Rodt T, Manns MP, Schulze-Osthoff K, Bantel H. -
28. September 2016 (AID-NetMD-Net)
Alarming consequences – autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1Curr Opin Rheumatol. 2016 Sep;28(5):550-9
Holzinger D, Roth J. -
28. September 2016 (MD-NetPID-Net)
XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome.BMJ Case Rep. 2016 Sep 28;2016. pii: bcr2016216922. doi: 10.1136/bcr-2016-216922
Christiansen M, Ammann S, Speckmann C, Mogensen TH -
21. September 2016 (ImprintingMD-Net)
Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesisPediatr Blood Cancer. 2016 Sep 21
Bachmann N, Crazzolara R, Bohne F, Kotzot D, Maurer K, Enklaar T, Prawitt D, Bergmann C -
1. September 2016 (CMT-netMD-Net)
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesThe American Journal of Human Genetics 99, Sept 16
Michaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, Daniela Weinmann,
Catharina Chiari, David L.H. Bennett, Christian Beetz, Dennis Klein, Peter M. Andersen, Ilka Böhme, Regina Fink-Puches, Michael Gonzalez, Matthew B. Harms, William Motley, Mary M. Reilly, Wilfried Renner, Sabine Rudnik-Schöneborn, Beate Schlotter-Weigel, Andreas C. Themistocleous, Jochen H. Weishaupt, Albert C. Ludolph, Thomas Wieland, Feifei Tao, Lisa Abreu, Reinhard Windhager, Manuela Zitzelsberger, Tim M. Strom, Thomas Walther, Steven S. Scherer, Stephan Zu¨chner, Rudolf Martini, and Jan Senderek -
5. July 2016 (AID-NetMD-Net)
Small Molecule Inhibitors Targeting Tec Kinase Block Unconventional Secretion of Fibroblast Growth Factor 2JBC Papers in Press, July 5, 2016
Giuseppe La Venuta, Sabine Wegehingel, Peter Sehr, Hans-Michael Müller, Eleni Dimou, Julia P. Steringer, Mareike Grotwinkel, Nikolai Hentze, Matthias P. Mayer, David W. Will§, Ulrike Uhrig, Joe D. Lewis, and Walter Nickel -
21. June 2016 (AID-NetMD-Net)
Nuclear delivery of recombinant OCT4 by chitosan nanoparticles for transgene-free generation of protein-induced pluripotent stem cellsOncotarget. 2016; 7(25):37728-37739
Tammam S, Malak P, Correa D, Rothfuss O, Azzazy HM, Lamprecht A, Schulze-Osthoff K. -
1. June 2016 (AID-NetMD-Net)
Bok is a genuine multi-BH-domain protein that triggers apoptosis in the absence of Bax and BakJ Cell Sci. 2016;129(11):2213-23
Einsele-Scholz S, Malmsheimer S, Bertram K, Stehle D, Johänning J, Manz M, Daniel PT, Gillissen BF, Schulze-Osthoff K, Essmann F. -
1. May 2016 (ImprintingMD-Net)
Correction of aberrant imprinting by allele-specific epigenome editingClin Pharmacol Ther. 2016 May;99(5):482-4.
Bashtrykov P, Kungulovski G, Jeltsch A -
19. April 2016 (AID-NetMD-Net)
The antihypertensive drug hydralazine activates the intrinsic pathway of apoptosis and causes DNA damage in leukemic T cellsOncotarget. 2016;7(16):21875-86
Ruiz-Magaña MJ, Martínez-Aguilar R, Lucendo E, Campillo-Davo D, Schulze-Osthoff K, Ruiz-Ruiz C. -
4. April 2016 (ImprintingMD-Net)
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulationClin Epigenetics. 2016 May 4;8:47.
Bohne F, Langer D, Martiné U, Eider CS, Cencic R, Begemann M, Elbracht M, Bülow L, Eggermann T, Zechner U, Pelletier J, Zabel BU, Enklaar T, Prawitt D. -
4. April 2016 (GeramyMD-Net)
Polymorphism of Amyloid Fibrils In VivoAngew Chem Int Ed Engl. 2016 Apr 4;55(15):4822-5
Annamalai K, Gührs KH, Koehler R, Schmidt M, Michel H, Loos C, Gaffney PM, Sigurdson CJ, Hegenbart U, Schönland S, Fändrich M. -
1. April 2016 (AID-NetMD-Net)
MALT1 Protease Activity Controls the Expression of Inflammatory Genes in Keratinocytes upon Zymosan StimulationJ Invest Dermatol. 2016;136(4):788-97
Schmitt A, Grondona P, Maier T, Brändle M, Schönfeld C, Jäger G, Kosnopfel C, Eberle FC, Schittek B, Schulze-Osthoff K, Yazdi AS, Hailfinger S. -
11. March 2016 (ImprintingMD-Net)
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypesBMC Med Genet. 2016 Mar 11;17:20
Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas, Lukas Soellner, Matthias Begemann, and Thomas Eggermann -
3. March 2016 (ImprintingMD-Net)
Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.Grothaus K, Kanber D, Gellhaus A, Mikat B, Kolarova J, Siebert R, Wieczorek D, Horsthemke B.
Epigenetics. 2016 Mar 3;11(3):216-26. doi: 10.1080/15592294.2016.1145330. Epub 2016 Feb 18.
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1. March 2016 (MD-NetMND-net)
Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLDJ Neural Transm (Vienna). 2016 Mar;123(3):289-96.
Feneberg E, Steinacker P, Volk AE, Weishaupt JH, Wollmer MA, Boxer A, Tumani H, Ludolph AC, Otto M. -
1. March 2016 (MD-NetMitoNet)
Life span extension by targeting a link between metabolism and histone acetylation in DrosophilaEMBO Rep. 2016 Mar
Peleg S, Feller C, Forne I, Schiller E, Sévin DC, Schauer T, Regnard C, Straub T, Prestel M, Klima C, Schmitt Nogueira M, Becker L, Klopstock T, Sauer U, Becker PB, Imhof A, Ladurner AG. -
1. March 2016 (AID-NetMD-Net)
Interferon-Mediated Cytokine Induction Determines Sustained Virus Control in Chronic Hepatitis C Virus InfectionJ Infect Dis. 2016; 213(5):746-54.
Wandrer F, Falk CS, John K, Skawran B, Manns MP, Schulze-Osthoff K, Bantel H. -
12. February 2016 (AID-NetMD-Net)
Inflammasome-dependent IL-1β release depends upon membrane permeabilisationCell Death and Differentiation (2016) 23, 1219–1231
F Martín-Sánchez, C Diamond, M Zeitler, AI Gomez, A Baroja-Mazo, J Bagnall, D Spiller, M White, MJD Daniels, A Mortellaro, M Peñalver5, P Paszek, JP Steringer, W Nickel, D Brough, and P Pelegrín, -
1. February 2016 (ImprintingMD-Net)
Epigenome Editing: State of the Art, Concepts, and PerspectivesTrends Genet. 2016 Feb;32(2):101-13.
Kungulovski G, Jeltsch A. -
1. February 2016 (AID-NetMD-Net)
The paracaspase MALT1 dampens NF-κB signalling by cleaving the LUBAC subunit HOIL-1FEBS J. 2016 Feb;283(3):400-2
Hailfinger S, Schmitt A, Schulze-Osthoff K. -
1. February 2016 (AID-NetMD-Net)
Decrease of Store-Operated Ca2+ Entry and Increase of Na+/Ca2+ Exchange by Pharmacological JAK2 InhibitionCell Physiol Biochem. 2016;38(2):683-95
Yan J, Hosseinzadeh Z, Zhang B, Froeschl M, Schulze-Osthoff K, Stournaras C, Lang F. -
18. January 2016 (AID-NetMD-Net)
Interrogating Substrate Selectivity and Composition of Endogenous Histone Deacetylase Complexes with Chemical ProbesAngew Chem Int Ed Engl. 2016;55(3):1192-5
Dose A, Sindlinger J, Bierlmeier J, Bakirbas A, Schulze-Osthoff K, Einsele-Scholz S, Hartl M, Essmann F, Finkemeier I, Schwarzer D -
7. October 2015 (MD-Net)
Long-term follow-up in patients with Congenital Cataract Facial Dysmorphism Neuropathy (CCFDN) SyndromeNeurology 2014 Oct 7;83:1337-1344
Walter MC, Bernert G, Zimmermann U, Müllner-Eidenböck A, Moser E, Kalaydjieva L, Lochmüller H, Müller-Felber W.
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28. September 2015 (AID-NetMD-Net)
The Startling Properties of Fibroblast Growth Factor 2: How to Exit Mammalian Cells without a Signal Peptide at HandJBC Papers in Press, September 28, 2015
Giuseppe La Venuta, Marcel Zeitler, Julia P. Steringer, Hans-Michael Müller, and Walter Nickel -
25. July 2015 (MD-Net)
50 years to diagnosis – autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. Neuromuscul Disord 2015Neuromuscul Disord. 2015 Jul;25(7):577-84. doi: 10.1016/j.nmd.2015.04.005. Epub 2015 Apr 16.
Walter MC, Rossius M, Zitzelsberger M, Vorgerd M, Müller-Felber W, Ertl-Wagner B, Zhang Y, Brinkmeier H, Senderek J, Schoser B
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16. June 2015 (AID-NetMD-Net)
HIV-Tat Protein Forms Phosphoinositide-dependent Membrane Pores Implicated in Unconventional Protein SecretionJBC Papers in Press, July 16, 2015
Marcel Zeitler, Julia P. Steringer, Hans-Michael Müller, Matthias P. Mayer, and Walter Nickel -
1. June 2015 (MD-NetPID-Net)
Septic arthritis or juvenile idiopathic arthritis – the case of a 2 year old boyPediatr Allergy Immunol. 26, 389-391, 2015.
Kallinich, T., Kölsch, U., Lieber, M., Unterwalder, N., Spors, B., Lorenz, M., Schwarz, K., Meisel, C. und von Bernuth, H. -
25. May 2015 (MD-Net)
Transcriptional regulator PRDM12 is essential for human pain perceptionNat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.
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1. May 2015 (MD-Net)
Deciphering the impact of parameters influencing transgene expression kinetics after repeated cell transduction with integration-deficient retroviral vectorsCytometry A. 2015 May;87(5):405-18. doi: 10.1002/cyto.a.22650.
Schott JW1, Jaeschke NM, Hoffmann D, Maetzig T, Ballmaier M, Godinho T, Cathomen T, Schambach A.
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1. May 2015 (MD-Net)
ATOH8: a novel marker in human muscle fiber regeneration.Histochem Cell Biol. 2015 May;143(5):443-52. doi: 10.1007/s00418-014-1299-6. Epub 2014 Dec 17.
Güttsches AK, Balakrishnan-Renuka A, Kley RA, Tegenthoff M, Brand-Saberi B, Vorgerd M.
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25. February 2015 (MD-Net)
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophyNeuromuscul Disord 2015; Feb 25:127-136
Meinke P, Schneiderat P, Srsen V, Korfali N, Thành PL, Wehnert M, Schirmer EC, Walter MC.
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25. February 2015 (MD-Net)
Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.Neuromuscul Disord. 2015 Feb;25(2):120-6. doi: 10.1016/j.nmd.2014.09.016. Epub 2014 Oct 22.
Vill K, Schessl J, Teusch V, Schroeder S, Blaschek A, Schoser B, Müller-Felber W.
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25. February 2015 (MD-Net)
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophyNeuromuscul Disord. 2015 Feb;25(2):127-36. doi: 10.1016/j.nmd.2014.09.012. Epub 2014 Oct 6.
Meinke P, Schneiderat P, Srsen V, Korfali N, Lê Thành P, Cowan GJ, Cavanagh DR, Wehnert M, Schirmer EC, Walter MC.
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18. December 2014 (MD-Net)
Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany.Orphanet J Rare Dis. 2014 Dec 18;9(1):210.
Schreiber-Katz O, Klug C, Thiele S, Schorling E, Zowe J, Reilich P, Nagels KH, Walter MC.
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7. October 2014 (MD-Net)
Long-term follow-up in patients with CCFDN syndromeNeurology. 2014 Oct 7;83(15):1337-44. doi: 10.1212/WNL.0000000000000874. Epub 2014 Sep 3.
Walter MC, Bernert G, Zimmermann U, Müllner-Eidenböck A, Moser E, Kalaydjieva L, Lochmüller H, Müller-Felber W.
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1. October 2014 (AID-NetMD-Net)
Monocyte-inducted development of Th17 cells and the release of S100 proteins are involved in the pathogenesis of graft-versus-host diseaseJ Immunol. 2014 Oct 1;193(7):3355-65
Reinhardt K, Foell D, Vogl T, Mezger M, Wittkowski H, Fend F, Federmann B, Gille C, Feuchtinger T,
Lang P, Handgretinger R, Andreas Bethge W, Holzer U. -
1. October 2014 (MD-Net)
Comparative economic impact of therapeutic innovation on health care burden of Duchenne Muscular Dystrophy (DMD) using Becker Muscular Dystrophy (BMD) as a comparator for potential clinical outcome corridor.Neuromuscular Disorders, Volume 24, Issues 9–10, October 2014, Pages 855, 19th International Congress of The World Muscle Society. Vorgestellt auf: 19th Int. Congress of the World Muscle Society, 07.-11.10.2014, Berlin, Germany.
Schreiber, O, Klug, C, Thiele, S, Schorling, E, Zowe, J, Reilich, P, Nagels, K, Walter, MC.
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28. August 2014 (MD-Net)
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiencyMol Cell Probes. 2014 Aug;28(4):118-22. doi: 10.1016/j.mcp.2013.11.002. Epub 2013 Nov 10.
Beytía Mde L, Dekomien G, Hoffjan S, Haug V, Anastasopoulos C, Kirschner J.
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21. August 2014 (AID-NetMD-Net)
P wave dispersion and QT dispersion in adult Turkish migrants with familial mediterranean fever living in GermanyInt J. Med Sci. 2014 Aug. 21
Giese A, Ornek A, Kurucay M, Kara K, Wittkowski H, Gohar F, Menge BA, Schmidt WE, Zeidler C. -
15. August 2014 (MD-Net)
Novel recessive myotilin mutation causes severe myofibrillar myopathy.Neurogenetics. 2014 Aug;15(3):151-6. doi: 10.1007/s10048-014-0410-4. Epub 2014 Jun 14.
Schessl J, Bach E, Rost S, Feldkirchner S, Kubny C, Müller S, Hanisch FG, Kress W, Schoser B.
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7. August 2014 (AID-NetMD-Net)
Activated STING in a vascular and pulmonary syndromeN Engl. J Med. 2014 Aug. 7; 371 (6):507-18
Lui Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanches GA, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CC, DiMattia MA, Cowen EW, Gonzalez B,
Palmer I, DiGeovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St. Hilaire C, Gurprased S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minnite CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R. -
1. August 2014 (MD-Net)
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9.
Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, Claeys KG.
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2. July 2014 (MD-Net)
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesJAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.
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1. June 2014 (MD-Net)
The impact of spinal muscular atrophies with regard to patients’ quality of life: a socio-economic analysis of a German patient cohortClinical Neurophysiology, Volume 125, Supplement 1, June 2014, Page S196, ISSN 1388-2457, http://dx.doi.org/10.1016/S1388-2457(14)50639-6. Vorgestellt auf: 30th International Congress of Clinical Neurophysiology (ICCN) of the IFCN, March 20–23, 2014, Berlin, Germany.
Schreiber O, Klug C, Thiele S, Herrmann C, Zowe J, Reilich P, Nagels K, Walter MC.
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1. June 2014 (MD-Net)
Pregnancy and delivery in women with Pompe disease.Mol Genet Metab. 2014 Jun;112(2):148-53. doi: 10.1016/j.ymgme.2014.03.010. Epub 2014 Mar 30.
Karabul N, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F.
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1. May 2014 (MD-NetPID-Net)
Successful Haploidentical Hematopoietic Stem Cell Transplantation in a Patient with SCID due to CD3epsilon Deficiency: Need for IgG-Substitution 6 Years LaterKlin Padiatr. 2014 May;226(3):149-53. Epub 2014 Feb 10.
Fuehrer M, Pannicke U, Schuetz C, Jacobsen EM, Schulz A, Friedrich W, et al. -
1. May 2014 (MD-Net)
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathologyActa Neuropathol. 2014 May;127(5):761-77. doi: 10.1007/s00401-013-1224-4. Epub 2013 Dec 21.
Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J.
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24. February 2014 (MD-Net)
Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot studyNeuromuscul Disord. 2014 Feb;24(2):134-42. doi: 10.1016/j.nmd.2013.10.011. Epub 2013 Nov 13.
Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R.
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7. December 2013 (MD-Net)
Dominant-negative Effects of KCNQ2 Mutations are Associated with Epileptic EncephalopathyAnn Neurol. 2013 Dec 7. doi: 10.1002/ana.24080. PMID: 24318194
Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, Jonghe PD, Lerche H, Maljevic S.
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27. October 2013 (MD-Net)
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and EuropeJ Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.
Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.
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2. September 2013 (MD-Net)
Osteopontin inhibits osmotic swelling of retinal glial (Müller) cells by inducing release of VEGF.Neuroscience. 2013 Aug 29;246:59-72. doi: 10.1016/j.neuroscience.2013.04.045. Epub 2013 Apr 30.
Wahl V, Vogler S, Grosche A, Pannicke T, Ueffing M, Wiedemann P, Reichenbach A, Hauck SM, Bringmann A.
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20. August 2013 (MD-Net)
Structural properties of EGCG-induced, nontoxic Alzheimer’s disease Aβ oligomers.J Mol Biol. 2012 Aug 24;421(4-5):517-24. doi: 10.1016/j.jmb.2012.01.013. Epub 2012 Jan 28.
Lopez del Amo JM, Fink U, Dasari M, Grelle G, Wanker EE,Bieschke J, Reif B.
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11. July 2013 (MD-Net)
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy.Am J Hum Genet. 2013 Jul 11;93(1):110-7. doi: 10.1016/j.ajhg.2013.05.005. Epub 2013 Jun 6.
Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM; European Retinal Disease Consortium, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI.
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19. June 2013 (MD-Net)
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle.Hum Mol Genet. 2013 Jun 19.
Klymiuk N, Blutke A, Graf A, Krause S, Burkhardt K, Wuensch A, Krebs S, Kessler B, Zakhartchenko V, Kurome M, Kemter E, Nagashima H, Schoser B, Herbach N, Blum H, Wanke R, Aartsma-Rus A, Thirion C, Lochmüller H, Walter MC, Wolf E.
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19. June 2013 (MD-Net)
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscleHum Mol Genet. 2013 Jun 19.
Klymiuk N, Blutke A, Graf A, Krause S, Burkhardt K, Wuensch A, Krebs S, Kessler B, Zakhartchenko V, Kurome M, Kemter E, Nagashima H, Schoser B, Herbach N, Blum H, Wanke R, Aartsma-Rus A, Thirion C, Lochmüller H, Walter MC, Wolf E.
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1. June 2013 (MD-Net)
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.Neurobiol Aging. 2013 Jun;34(6):1708.e1-6. doi: 10.1016/j.neurobiolaging.2012.10.009. Epub 2012 Nov 8.
Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, Hübers A, Keagle PJ, Piotrowska K, Press R, Andersen PM, Ludolph AC, Weishaupt JH.
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30. May 2013 (MD-Net)
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyothrophic lateral sclerosis in GermanyNeurobiol Aging. 2013 May;34(5):1516.e9-15. doi: 10.1016/j.neurobiolaging.2012.09.007. Epub 2012 Oct 10.
Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, Ludolph AC, Andersen PM.
Source
Department of Neurology, Ulm University, Ulm, Germany. jochen.weishaupt@uni-ulm.de -
23. May 2013 (MD-Net)
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.Neuromuscul Disord. 2013 May;23(5):418-26. doi: 10.1016/j.nmd.2013.02.006. Epub 2013 Mar 13.
Feldkirchner S, Walter MC, Müller S, Kubny C, Krause S, Kress W, Hanisch FG, Schoser B, Schessl J.
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1. May 2013 (MD-Net)
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.Neurobiol Aging. 2013 May;34(5):1516.e9-15. doi: 10.1016/j.neurobiolaging.2012.09.007. Epub 2012 Oct 10.
Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, Ludolph AC, Andersen PM.
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18. April 2013 (MD-Net)
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation.Hum Mutat. 2013 Apr 18. doi: 10.1002/humu.22342.
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.
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17. April 2013 (MD-Net)
Severe loss of appetite in amyotrophic lateral sclerosis patients: online self-assessment study.Interact J Med Res. 2013 Apr 17;2(1):e8. doi: 10.2196/ijmr.2463.
Holm T, Maier A, Wicks P, Lang D, Linke P, Münch C, Steinfurth L, Meyer R, Meyer T.
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15. April 2013 (MD-NetMND-net)
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis.Hum Mol Genet. 2013 Apr 15;22(8):1581-600. doi: 10.1093/hmg/ddt008. Epub 2013 Jan 11.
Prause J, Goswami A, Katona I, Roos A, Schnizler M, Bushuven E, Dreier A, Buchkremer S, Johann S, Beyer C, Deschauer M, Troost D, Weis J.
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1. April 2013 (MD-Net)
miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.Orphanet J Rare Dis. 2013 Apr 5;8:55. doi: 10.1186/1750-1172-8-55.
Harafuji N, Schneiderat P, Walter MC, Chen YW.
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14. February 2013 (MD-Net)
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.Orphanet J Rare Dis. 2013 Feb 14;8:26. doi: 10.1186/1750-1172-8-26.
Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H.
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1. February 2013 (MD-Net)
Myopodin is an F-actin bundling protein with multiple independent actin-binding regions.J Muscle Res Cell Motil. 2013 Feb;34(1):61-9. doi: 10.1007/s10974-012-9334-5. Epub 2012 Dec 9.
Linnemann A, Vakeel P, Bezerra E, Orfanos Z, Djinović-Carugo K, van der Ven PF, Kirfel G, Fürst DO.
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16. January 2013 (MD-Net)
A new web-based method for automated analysis of muscle histology.BMC Musculoskelet Disord. 2013 Jan 16;14:26. doi: 10.1186/1471-2474-14-26.
Pertl C, Eblenkamp M, Pertl A, Pfeifer S, Wintermantel E, Lochmüller H, Walter MC, Krause S, Thirion C.
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1. December 2012 (MD-Net)
Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components.Proteomics. 2012 Dec;12(23-24):3598-609. doi: 10.1002/pmic.201100559. Epub 2012 Nov 5.
Feldkirchner S, Schessl J, Müller S, Schoser B, Hanisch FG.
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1. November 2012 (MD-Net)
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.J Neurol (2012) 259:838–850. DOI 10.1007/s00415-011-6262-z. Epub 2011 Oct 6.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H.
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31. October 2012 (MD-Net)
A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.Kley RA, Maerkens A, Leber Y, Theiss V, Schreiner A, van der Ven PF, Uszkoreit J, Stephan C, Eulitz S, Euler N, Kirschner J, Mueller K, Meyer HE, Tegenthoff M, Fuerst DO, Vorgerd M, Mueller T, Marcus K.
Klymiuk N, Thirion C, Burkhardt K, Wuensch A, Krause S, Krebs S, Graf A, Kessler B,
Zakhartchenko V, Kurome M, Nagashima H, Schoser B, Herbach N, Blitke A, Blum H, Wanke R,
Lochmüller H, Walter MC, Wolf E. Targeted deletion of DMD exon 52 in the pig results in
biochemical and clinical hallmarks of Duchenne muscular dystrophy. Sci Trans Med 2011
submitted. Mol Cell Proteomics. 2012 Oct 31. [Epub ahead of print] -
1. October 2012 (MD-Net)
Muscle MRI findings in limb girdle muscular dystrophy type 2LSarkozy A, Deschauer M, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Radunovic A,
Schreiber H, Vaidya SS, Gläser D, Bushby K, Lochmüller H, Straub V.
Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012. -
1. August 2012 (MD-Net)
LINC complex alterations in DMD and EDMD/CMT fibroblasts.Eur J Cell Biol. 2012 Aug;91(8):614-28. doi: 10.1016/j.ejcb.2012.03.003. Epub 2012 May 1.
Taranum S, Vaylann E, Meinke P, Abraham S, Yang L, Neumann S, Karakesisoglou I, Wehnert M, Noegel AA.
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27. June 2012 (MD-Net)
Congenital myasthenic syndromes: impact of gentotype-phentotype correlation on strategy and efficiency of genetic testing.Abicht A, Dusl M, Gallenmüller C, Guergueltcheva C, Schara U, Marina AD, Almaras S, von der Hagen M, Huebner A, Chaouch A, Mihaylova M, Müller JS, Lochmüller H.
Hum Mutat. 2012 Oct;33(10):1474-84. doi: 10.1002/humu.22130. Epub 2012 Jun 27 -
1. May 2012 (MD-Net)
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.Muscle Nerve. 2012 May;45(5):740-2. doi: 10.1002/mus.23281.
Schessl J, Kress W, Schoser B.
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29. March 2012 (MD-Net)
A role for PLC1 in myotonic dystrophies type 1 and 2.The FASEB Journal article fj.11-200337. Published online March 29, 2012.
Irene Faenza, William Blalock, Alberto Bavelloni, Benedikt Shoser, Roberta Fiume, Stephaniè Pacella, Manuela Piazzi, Antonietta D’Angelo, and Lucio Cocco.
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23. March 2012 (MD-Net)
Biomechanical characterization of a desminopathy in primary human myoblasts.Biochem Biophys Res Commun. 2012 Mar 23;419(4):703-7. doi: 10.1016/j.bbrc.2012.02.083. Epub 2012 Feb 21.
Bonakdar N, Luczak J, Lautscham L, Czonstke M, Koch TM, Mainka A, Jungbauer T, Goldmann WH, Schröder R, Fabry B.
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15. February 2012 (MD-Net)
Toward deconstructing the phenotype of late-onset Pompe disease.Am J Med Genet C Semin Med Genet. 2012 Feb 15;160(1):80-8. doi: 10.1002/ajmg.c.31322. Epub 2012 Jan 17.
Schüller A, Wenninger S, Strigl-Pill N, Schoser B.
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1. January 2012 (MD-Net)
Monatsschr Kinderheilkd 2012 • 160:177–186. DOI 10.1007/s00112-011-2603-3.Monatsschr Kinderheilkd 2012 • 160:177–186. DOI 10.1007/s00112-011-2603-3.
J. Vry, U. Schara, S. Lutz, J. Kirschner
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1. January 2012 (MD-Net)
Neurol Rehabil 2011; 18 (1): 3 – 18, Neurologie & Rehabilitation Ausgabe 1-2012.Neurol Rehabil 2011; 18 (1): 3 – 18, Neurologie & Rehabilitation Ausgabe 1-2012.
A. Schüller, B. Schoser
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20. December 2011 (MD-Net)
A rat model of Charcot Marie Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patientsFledrich F, Schlotter-Weigel B, Schnizer T, Wichert S, Stassart RM, Meyer zu Horste G, Weiss BG, Haag U, Walter MC, Rautenstrauss B, Paulus W, Nave KA, Rossner M, Sereda MW. Brain. 2012 Jan;135(Pt 1):72-87. doi: 10.1093/brain/awr322. Epub 2011 Dec 20.
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1. December 2011 (MD-Net)
Reducing body myopathy and other FHL1 related muscular disordersSchessl J, Feldkirchner S, Kubny C, Schoser B. Semin Pediatr Neurol. 2011 Dec;18(4):257-63. doi: 10.1016/j.spen.2011.10.007
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30. November 2011 (MD-Net)
Distal myopathy with upper limb predominance caused by filamin ChaploinsufficiencGuergueltcheva, V., K. Peeters, J. Baets, C. Ceuterick-de Groote, J.-J. R Martin, A. Suls, E. De Vriendt, V. Mihaylova, T. Chamova, L. Almeida-Souza, E. Ydens, C. Tzekov, G. Hadjidekov, M. Gospodinova, K. Storm, E. Reyniers, S. Bichev, P. F. M. van der Ven, D. O. Fürst, V. Mitev, H.
Lochmüller, V. Timmerman, I. Tournev, P. De Jonghe und A. Jordanova (2011).
y. Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. -
29. October 2011 (MD-Net)
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor
RW, Chinnery PF.. J Neurol Neurosurg Psychiatry. 2011 Oct 29. -
6. October 2011 (MD-Net)
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.Guergueltcheva V, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J,
Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A,
Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann
R, Voit T, Steinlein OK, Urtizberea A, Chaouch A, Straub V, Bushby K, Palace J, Beeson D,
Abicht A, Lochmüller H, Müller JS. J Neurol 2011 Oct 6. PubMed PMID: 21975507. -
7. August 2011 (MD-Net)
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndromeChaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H. J Neurol 2011 Aug 7. [Epub ahead of print]
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1. August 2011 (MD-Net)
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC,
Schoser B, Lochmüller H. J Neurol 2011 Aug;258(8):1437-44. -
1. August 2011 (MD-Net)
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-
Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C.
Neuromuscul Disord 2011 Aug;21(8):556-62. -
1. July 2011 (MD-Net)
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotypeRohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Meissner T,
Burger W, Schober E, Huebner A, Lee-Kirsch MA; Wolfram Syndrome Diabetes Writing Group.
Diabetes Care. 2011 Jul;34(7):1503-10. -
10. June 2011 (MD-Net)
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyDuff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PF, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Am J Hum Genet. 2011 Jun 10;88(6):729-40.
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1. June 2011 (MD-Net)
Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complexScott AP, Laing NG, Mastaglia F, Needham M, Walter MC, Dalakas MC, Allcock RJ. J Neuroimmunol 2011 Jun;235(1-2):77-83.
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1. June 2011 (MD-Net)
New ophthalmic features in a family with triple A syndromeMoschos MM, Margetis I, Koehler K, Gatzioufas Z, Huebner A. Int Ophthalmol. 2011 Jun;31(3):239-43.
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1. June 2011 (MD-Net)
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A,
Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V,
Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerrière A,
Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi
MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.
Nat Med 2011 Jun;17(6):720-5. -
5. May 2011 (MD-Net)
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 geneReilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman
GS, Hans VH, Reimann J, Macmillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder
E, Walter MC, Schoser B, Lochmüller H. J Neurol 2011 May 5. -
1. May 2011 (MD-Net)
Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathyWengert O, Meisel A, Kress W, Dekomien G, Angstwurm K, Heppner FL, Goebel HH, Stenzel W.
J Neurol 2011 May;258(5):915-7. -
1. May 2011 (MD-Net)
Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degenerationSchessl J, Schuberth M, Reilich P, Schneiderat P, Strigl-Pill N, Walter MC, Schlotter-Weigel B,
Schoser B. J Neurol 2011 May;258(5):946-7. -
1. March 2011 (MD-Net)
Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S. Hum Mutat. 2011 Mar;32(3):309-17.
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1. March 2011 (MD-Net)
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathyDumić M, Barišić N, Rojnić-Putarek N, Kušec V, Stanimirović A, Koehler K, Huebner A. Eur J
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11. February 2011 (MD-Net)
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectSenderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S,
Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S,
Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK,
Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A,
von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller
H. Am J Hum Genet 2011 Feb 11;88(2):162-72. -
1. February 2011 (MD-Net)
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutationsSchara U, von Kleist-Retzow JC, Lainka E, Gerner P, Pyle A, Smith PM, Lochmüller H, Czermin
B, Abicht A, Holinski-Feder E, Horvath R. J Inherit Metab Dis 2011 Feb;34(1):197-201. -
1. February 2011 (MD-Net)
Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytesLarochelle N, Stucka R, Rieger N, Schermelleh L, Schiedner G, Kochanek S, Wolf E, Lochmüller
H. Transgenic Res 2011 Feb;20(1):123-35. -
4. January 2011 (MD-Net)
Non-ATGinitiated translation directed by microsatellite expansionsZu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M,
Markowski TW, Ingram MA, Nan Z, Forster C, Low WC, Schoser B, Somia NV, Clark HB,
Schmechel S, Bitterman PB, Gourdon G, Swanson MS, Moseley M, Ranum LP.
Proc Natl Acad Sci U S A 2011 Jan 4;108(1):260-5. -
1. January 2011 (MD-Net)
SarcoglycanopathiesKirschner J, Lochmüller H. Handb Clin Neurol 2011;101:41-6.
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1. January 2011 (MD-Net)
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyKemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-
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