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229th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands
Neuromuscular Disorders - May 2018Volker Straub, Alexander Murphy, Bjarne Udd
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Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies
The Journal of Cachexia, Sarcopenia and Muscle - April 2018Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van den Bergen, Zaïda Koeks, Hermien E. Kan, Melissa T. Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni,
Cristina Al‐Khalili‐Szigyarto, Marleen J.A. Koel‐Simmelink, Charlotte E. Teunissen, Hanns Lochmüller, Erik H. Niks, Annemieke Aartsma‐Rus
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Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study
Lancet Neurology, volume 17, issue 4, p.327–334 - April 2018Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Prof Alexandra Durr, Prof Alexis Brice, Perrine Charles, Cecilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sobanska, Anna Sulek, Tanja Schmitz-Hübsch, Ludger Schöls, Holger Hengel, Prof Bela Melegh, Prof Alessandro Filla, Antonella Antenora, Jon Infante, Prof José Berciano, Bart P van de Warrenburg, Dagmar Timmann, Sylvia Boesch, Prof Massimo Pandolfo, Prof Jörg B Schulz, Peter Bauer, Paola Giunti, Jun-Suk Kang, Prof Thomas Klockgether, Sophie Tezenas du Montcel
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Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
American Journal of Medical Genetics - March 2018David Owen, Ana Töpf, Veeramani Preethish‐Kumar, Paolo José Lorenzoni, Bas Vroling, Rosana Herminia Scola, Elza Dias‐Tosta, Argemiro Geraldo, Kiran Polavarapu, Saraswati Nashi, Daniel Cox, Teresinha Evangelista, John Dawson, Rachel Thompson, Jan Senderek, Steven Laurie, Sergi Beltran, Marta Gut, Ivo Gut, Atchayaram Nalini, Hanns Lochmüller
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RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
European Journal of Human Genetics - February 2018Hanns Lochmüller, Dorota M. Badowska, Rachel Thompson, Nine V. Knoers, Annemieke Aartsma-Rus, Ivo Gut, Libby Wood, Tina Harmuth, Andre Durudas, Holm Graessner, Franz Schaefer, Olaf Riess, RD-Connect consortium, NeurOmics consortium & EURenOmics consortium
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The Beta-Adrenergic Agonist Salbutamol Modulates Neuromuscular Junction Formation in Zebrafish Models of Human Myasthenic Syndromes
Open Access article - February 2018Grace McMacken, Dan Cox, Andreas Roos, Juliane Müller, Roger Whittaker, Hanns Lochmüller
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Rare non-synonymous variants in SORT1 are associated with increased risk for frontotemporal dementia
Neurobiology of Aging - February 2018Stéphanie Philtjens, Sara Van Mossevelde, Julie van der Zee, Eline Wauters, Lubina Dillen, Mathieu Vandenbulcke, Rik Vandenberghe, Adrian Ivanoiu, Anne Sieben, Christiana Willems, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Barbara Borroni, Alessandro Padovani, Pau Pastor, Monica Diez-Fairen, Miquel Aguilar, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Isabel Hernández, Merce Boada, Agustín Ruiz, Benedetta Nacmiass, Sandro Sorbi, Maria Rosário Almeida, Isabel Santana, Jordi Clarimón, Alberto Lleó, Giovanni B. Frisoni, Raquel Sanchez-Valle, Albert Lladó, Estrella Gómez-Tortosa, Ellen Gelpi, Marleen Van den Broeck, Karin Peeters, Patrick Cras, Peter P. De Deyn, Sebastiaan Engelborghs, Marc Cruts, Christine Van
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PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease
Journal of Neurology, Neurosurgery & Pyschiatry - February 2018Manisha Juneja, Abdelkrim Azmi, Jonathan Baets, Andreas Roos, Matthew J Jennings, Paola Saveri, Chiara Pisciotta, Nathalie Bernard-Marissal, Bernard L Schneider, Catherine Verfaillie, Roman Chrast, Pavel Seeman, Angelika F Hahn, Peter de Jonghe, Stuart Maudsley, Rita Horvath, Davide Pareyson, Vincent Timmerman
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Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy
Journal of Cellular and Molecular Medicine - February 2018Pietro Spitali, Kristina Hettne, Roula Tsonaka, Ekrem Sabir, Alexandre Seyer, Jesse B.A. Hemerik, Jelle J. Goeman, Esther Picillo, Manuela Ergoli, Luisa Politano, Annemieke Aartsma-Rus
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Harmonising phenomics information for a better interoperability in the rare disease field
European Journal of Medical Genetics - February 2018Sylvie Maiellaa, Annie Olrya, Marc Hanauera, Valérie Lanneaua, Halima Lourghia, Bruno Donadillea, Charlotte Rodwella, Sebastian Köhlerc, Dominik Seelowc, Simon Juppe, Helen Parkinsone, Tudor Grozaf, Michael Brudnod, Peter N. Robinsonb, Ana Ratha
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A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
Journal of Neurology, p.1–6 - January 2018Eduardo de Paula Estephan, Cláudia Ferreira da Rosa Sobreira, André Clériston José dos Santos, Pedro José Tomaselli, Wilson MarquesJr., Roberta Paiva Magalhães Ortega, Marcela Câmara Machado Costa, André Macedo Serafim da Silva, Rodrigo Holanda Mendonça, Vitor Marques Caldas, Antonio Alberto Zambon, Osório Abath Neto, Paulo Eurípedes Marchiori, Carlos Otto Heise, Umbertina Conti Reed, Yoshiteru Azuma, Ana Töpf, Hanns Lochmüller, Edmar Zanoteli
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ALS-related human cortical and motor neurons survival is differentially affected by Sema3A
Cell Death & Diseasevolume, volume 9, issue 256 - January 2018Anastasya Birger, Miri Ottolenghi, Liat Perez, Benjamin Reubinoff & Oded Behar
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Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease
Rare Diseases Epidemiology: Update and Overview - December 2017Rachel Thompson, Agata Robertson, Hanns Lochmüller
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Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis
Rare Diseases Epidemiology: Update and Overview, p.25-38 - December 2017Domenica Taruscio, Giovanna Floridia, Marco Salvatore, Stephen C. Groft, William A. Gahl
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Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne
Scientific Reports, volume 7, issue Article number: 17888 - December 2017A. Lourbakos, N. Yau, P. de Bruijn, M. Hiller, K. Kozaczynska, R. Jean -Baptiste, M. Reza, R. Wolterbeek, Z. Koeks, B. Ayoglu, D. de Klerk, G. Campion, I. Zaharieva, V. D. Nadarajah, P. Nilsson , C. Al-Khalili Szigyarto, F. Muntoni, H. Lochmüller, J. J. Verschuuren, N. Goemans, M. Tulinius, E. H. Niks, S. de Kimpe, A. Aartsma-Rus, Peter A. C. ’t Hoe & P. Spitali
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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
Brain - November 2017Ludger Schöls, Tim W Rattay, Peter Martus, Christoph Meisner, Jonathan Baets, Imma Fischer, Christine Jägle, Matthew J Fraidakis, Andrea Martinuzzi, Jonas Alex Saute, Marina Scarlato, Antonella Antenora, Claudia Stendel, Philip Höflinger, Charles Marques Lourenco, Lisa Abreu, Katrien Smets, Martin Paucar, Tine Deconinck, Dana M Bis, Sarah Wiethoff, Peter Bauer, Alessia Arnoldi, Wilson Marques, Laura Bannach Jardim, Stefan Hauser, Chiara Criscuolo, Alessandro Filla, Stephan Züchner, Maria Teresa Bassi, Thomas Klopstock, Peter De Jonghe, Ingemar Björkhem, Rebecca Schüle
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Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy
Muscle & Nerve - October 2017Morís, G., Wood, L., Fernández-Torrón, R., González Coraspe, J. A., Turner, C., Hilton-Jones, D., Norwood, F., Willis, T., Parton, M., Rogers, M., Hammans, S., Roberts, M., Househam, E., Williams, M., Lochmüller, H. and Evangelista, T.
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The success of whole exome sequencing analysis in neuromuscular diseases patients: the UNIFE experience within neuromics project
Neuromuscular Disorders, volume 27, issue 2, p.194 - October 2017M. Neri, C. Scotton, R. Selvatici, F. Gualandi, B. Wirth, L. Schols, T. Klockgether, H. Lochmüller, F. Muntoni, A. D'Amico, E. Bertini, M. Pane, E. Mercuri, A. Ferlini
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Whole genome sequencing in neuromuscular diseases: the UNIFE experience within the neuromics project
Neuromuscular Disorders, volume 27, issue 2, p.194-195 - October 2017R. Selvatici, M. Neri, C. Scotton, M. Falzarano, R. Rossi, A. Armaroli, F. Gualandi, S. Fini, A. Ferlini
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The success of whole exome sequencing analysis in neuromuscular diseases patients: the UNIFE experience within neuromics project
Neuromuscular Disorders, volume 27, p.S194 - October 2017M. Neri, C. Scotton, R. Selvatici, F. Gualandi, B. Wirth, L. Schols, T. Klockgether, H. Lochmüller, F. Muntoni, A. D’Amico, E. Bertini, M. Pane, E. Mercuri, A. Ferlini
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Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
PLOS - September 2017Mallory C. Shields, Matthew R. Bowers, McKenzie M. Fulcer, Madelyn K. Bollig, Patrick J. Rock, Bryan R. Sutton, Alysia D. Vrailas-Mortimer, Hanns Lochmüller, Roger G. Whittaker, Rita Horvath, Noreen E. Reist
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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
Brain - September 2017Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H. R. Ludtmann, Vincenzo Salpietro, Oscar D. Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S. Scalco Abi Li, Balasubramaniem Ashokkumar, Charles M. Lourenço, Simon Heales, Rita Horvath, Patrick F. Chinnery, Camilo Toro, Andrew B. Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamas Revesz, Dimitri M. Kullmann, James E. C. Jepson, Henry Houlden
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Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function
Acta Neuropathologica Communications, volume Neuroscience of Disease 2017, issue 5, p.72 - September 2017Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O. Fürst, Matthias Vorgerd and Wolfgang A. Linke
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Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation
Brain - September 2017Mert Karakaya, Neda Mazaheri, Ipek Polat, Diana Bharucha-Goebel, Sandra Donkervoort, Reza Maroofian, Gholamreza Shariati, Irmgard Hoelker, Kristin Monaghan, Sara Winchester, Robert Zori, Hamid Galehdari, Carsten G. Bönnemann, Uluc Yis, Brunhilde Wirth
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Treatable inherited rare movement disorders
Movement Disorders - September 2017H. A. Jinnah, Alberto Albanese, Kailash P. Bhatia, Francisco Cardoso, Gustavo Da Prat, Tom J. de Koning, Alberto J. Espay, Victor Fung, Pedro J. Garcia-Ruiz, Oscar Gershanik, Joseph Jankovic , Ryuji Kaji, Katya Kotschet, Connie Marras, Janis M. Miyasaki, Francesca Morgante, Alexander Munchau, Pramod Kumar Pal, Maria C. Rodriguez Oroz, Mayela Rodríguez-Violante, Ludger Schöls, Maria Stamelou, Marina Tijssen, Claudia Uribe Roca, Andres de la Cerda, Emilia M. Gatto
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NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients
Neurobiology of Aging - August 2017Hung PhuocNguyen, Sara Van Mossevelde, Lubina Dillen, Jan L.De Bleecker, Matthieu Moisse, Philip Van Damme, Christine Van Broeckhoven, Julie van der Zee on behalfof the BELNEU Consortium
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Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A
Journal of Neurology, Neurosurgery & Pyschiatry - August 2017Robert Fledrich, Manoj Mannil, Andreas Leha, Caroline Ehbrecht, Alessandra Solari, Ana L Pelayo-Negro, José Berciano, Beate Schlotter-Weigel, Tuuli J Schnizer, Thomas Prukop, Natalia Garcia-Angarita, Dirk Czesnik, Jana Haberlová, Radim Mazanec, Walter Paulus, Tim Beissbarth, Maggie C Walter, CMT- TRIAAL, Jean-Yves Hogrel, Odile Dubourg, Angelo Schenone, Jonathan Baets, Peter De Jonghe, Michael E Shy, Rita Horvath, Davide Pareyson, Pavel Seeman, Peter Young, Michael W Sereda
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Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases
Brain A Journal of Neurology - August 2017Elias Adriaenssens, Thomas Geuens, Jonathan Baets, Andoni Echaniz-Laguna, Vincent Timmerman
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Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Journal of Neurology - August 2017Ilaria Giordano, MD, Florian Harmuth, MSc, Heike Jacobi, MD, Brigitte Paap, PhD, Stefan Vielhaber, MD, Judith Machts, MSc, Ludger Schöls, MD, Matthis Synofzik, MD, Marc Sturm, PhD, Chantal Tallaksen, MD, Iselin M. Wedding, MD, Sylvia Boesch, MD, Andreas Eigentler, MD, Bart van de Warrenburg, MD, Judith van Gaalen, MD, Christoph Kamm, MD, Ales Dudesek, MD, Jun-Suk Kang, MD, Dagmar Timmann, MD, Gabriella Silvestri, MD, Marcella Masciullo, MD, Thomas Klopstock, MD, Christiane Neuhofer, MD, Christos Ganos, MD, Alessandro Filla, MD, Peter Bauer, MD, Sophie Tezenas du Montcel, MD, PhD and Thomas Klockgether, MD
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A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8
Acta Neuropathologica, p.1-18 - August 2017Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied, Steven Goossens, Jody J. Haigh, Claude, Libert Chantal Ceuterick-de Groote, Joy Irobi, Joachim Weis, Vincent Timmerman
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Identification of genetic variants associated with Huntington’s disease progression: a genome-wide association study
Lancet Neurology - June 2017Davina J Hensman Moss, Antonio F Pardiñas, Prof Douglas Langbehn, Kitty Lo, Prof Blair R Leavitt, Prof Raymund Roos, Prof Alexandra Durr, Prof Simon Mead
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Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy
Journal of Neurology - May 2017Sandra Moreira, Libby Wood, Debbie Smith, Chiara Marini-Bettolo, Michela Guglieri, Grace McMacken, Geraldine Bailey, Anna Mayhew, Robert Muni-Lofra, Gail Eglon, Maggie Williams, Volker Straub, Hanns Lochmüller, Teresinha Evangel
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Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
Human Mutation - May 2017Nasca, A., Scotton, C., Zaharieva, I., Neri, M., Selvatici, R., Magnusson, O. T., Gal, A., Weaver, D., Rossi, R., Armaroli, A., Pane, M., Phadke, R., Sarkozy, A., Muntoni, F., Hughes, I., Cecconi, A., Hajnóczky, G., Donati, A., Mercuri, E., Zeviani, M., Ferlini, A. and Ghezzi, D.
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Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies
Front. Mol. Neurosci - May 2017Mansour Haidar & Vincent Timmerman
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
American Journal of Human Genetics, volume 100, issue 5, p.695-705 - May 2017Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Angel Carracedo, Johan T. den Dunnen0, Stephanie O.M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Ivo Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha M. Knoppers, Jeffrey P. Krischer0, Milan Macek Jr., Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony A. Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak-Chung Sham, Rumen Stefanov, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang0, Han Brunner, Michael J. Bamshad, Hanns Lochmüller
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Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
American Academy of Neurology - May 2017Yoshiteru Azuma MD PhD, Ana Töpf PhD, Teresinha Evangelista MD, Paulo José Lorenzoni MD PhD, Andreas Roos PhD, Pedro Viana MD, Hidehito Inagaki PhD, Hiroki Kurahashi MD PhD, Hanns Lochmüller MD.
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Hereditary spastic paraplegia: More than an upper motor neuron disease
Revue Neurologique - April 2017L. Parodia, S. Fenua, G. Stevanina, A. Durr
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Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease
Molecules 2017, volume 22, issue 4, p.563 - April 2017Valentina Sardone, Haiyan Zhou, Francesco Muntoni, Alessandra Ferlini and Maria Sofia Falzarano
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A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population
European Journal of Human Genetics - March 2017Stojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović and Volker Straub
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Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing
Muscle & Nerve - March 2017Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze J.-F, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M. and Krahn, M.
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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome
Annals of Neurology - March 2017Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar S, Pitt M, Bello O, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S1, Manzur AY, Wirth B, Houlden H.
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Genetic heterogeneity of motor neuropathies
Neurology - March 2017Boglarka Bansagi, MD, Helen Griffin, PhD, Roger G. Whittaker, MD, PhD, Thalia Antoniadi, PhD, Teresinha Evangelista, MD, James Miller, MD, PhD, Mark Greenslade, PhD, Natalie Forester, PhD, Jennifer Duff, PhD, Anna Bradshaw, Stephanie Kleinle, PhD, Veronika Boczonadi, PhD, Hannah Steele, MD, Venkateswaran Ramesh, MD, Edit Franko, MD, PhD, Angela Pyle, PhD, Hanns Lochmüller, MD, PhD, Patrick F. Chinnery, MD, FRCP, FMedSci and Rita Horvath, MD, PhD
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Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias
Molecular Genetics & Genomic Medicine - March 2017Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L and Züchner S
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Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration
Neurobiology of Disease - February 2017Julien Branchua, Maxime Boutrya, Laura Sourda, Marine Deppa, Céline Leonea, Alexandrine Corrigera, Maeva Valluccia, Typhaine Estevesa, Raphaël Matusiaka, Magali Dumonta,, Marie-Paule Muriela, Filippo M. Santorellif, Alexis Bricea, Khalid Hamid El Hachimia, Giovanni Stevanina, Frédéric Darios
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Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease
Scientific Reports 7 Article number: 44849 - February 2017Davina J. Hensman Moss, Michael D. Flower, Kitty K. Lo, James R. C. Miller, Gert-Jan B. van Ommen, Peter A. C. ’t Hoen, Timothy C. Stone, Amelia Guinee, Douglas R. Langbehn, Lesley Jones, Vincent Plagnol, Willeke M. C. van Roon-Mom, Peter Holmans & Sarah J. Tabrizi
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STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
Orphanet Journal of Rare Diseases - February 2017Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets† and Matthis Synofzik
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Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion
JAMA Neurol - February 2017Sara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, Kristel Sleegers, Jan De Bleecker, Anne Sieben, Rik Vandenberghe, Tim Van Langenhove, Jonathan Baets, Olivier Deryck, Patrick Santens, Adrian Ivanoiu, Christiana Willems, Veerle Bäumer, Marleen Van den Broeck, Karin Peeters, Maria Mattheijssens, Peter De Jonghe, Patrick Cras, Jean-Jacques Martin, Marc Cruts, Peter P. De Deyn, Sebastiaan Engelborghs, Christine Van Broeckhoven
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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
American Journal of Human Genetics - February 2017Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G. Bönnemann, Osório Abath Neto, Umbertina C. Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell’Aica, René P. Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C. Walter, Tim M. Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E. Swan, Hanns Lochmüller, Jan Senderek
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Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic and Functional Insights into Novel Mutations
Human Mutation - February 2017Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T.
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Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
American Journal of Human Genetics - January 2017Markus Riessland, Anna Kaczmarek, Svenja Schneider, Kathryn J. Swoboda, Heiko Löhr, Cathleen Bradler, Vanessa Grysko, Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie, Laura Torres-Benito, Miriam Peters, Aaradhita Upadhyay, Nasim Biglari, Sandra Kröber, Irmgard Hölker, Lutz Garbes, Christian Gilissen, Alexander Hoischen, Gudrun Nürnberg, Peter Nürnberg, Michael Walter, Frank Rigo, C. Frank Bennett, Min Jeong Kye, Anne C. Hart, Matthias Hammerschmidt, Peter Kloppenburg, Brunhilde Wirth
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Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease
Acta Neuropathologica Communications, volume 2017, issue 5 - January 2017Thomas Geuens, Vicky De Winter, Nicholas Rajan, Tilmann Achsel, Ligia Mateiu, Leonardo Almeida-Souza, Bob Asselbergh, Delphine Bouhy, Michaela Auer-Grumbach, Claudia Bagni and Vincent Timmerman
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Reduced serum myostatin concentrations associated with genetic muscle disease progression
Journal of Neurology, volume 2017 - January 2017Peter M. Burch, Oksana Pogoryelova, Joe Palandra, Richard Goldstein, Donald BennettLori Fitz, Michela Guglieri, Chiara Marini Bettolo, Volker Straub, Teresinha Evangelista, Hendrik Neubert, Hanns Lochmüller, Carl Morris
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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Neurobiology of Aging - December 2016Federica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben, Patrick Santens, Jan De Bleecker, Mathieu Vandenbulcke, Sebastiaan Engelborghs, Jonathan Baets, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P. De Deyn, Jean-Jacques Martin, Philip Van Damme, Christine Van Broeckhoven, Julie van der Zee
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Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study
Journal of Neuromuscular Diseases, volume 3, issue 4, p.529-537 - November 2016Sophie D. Westa, Hanns Lochmüller, Joan Hughes, Antonio Atalaia, Chiara Marini-Bettolo,
Simon V. Baudouin and Kirstie N. Anderson
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Phenotypic convergence of Menkes and Wilson disease
Neurology - November 2016Boglarka Bansagi, MD, David Lewis-Smith, MRCP, Endre Pal, MD, PhD, Jennifer Duff, PhD, Helen Griffin, PhD, Angela Pyle, PhD, Juliane S. Müller, PhD, Gabor Rudas, MD, PhD, Zsuzsanna Aranyi, MD, PhD, Hanns Lochmüller, MD, Patrick F. Chinnery, FRCP, FMedSci and Rita Horvath, MD, PhD
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The Effect of Neurological Genomics and Personalized Mitochondrial Medicine
JAMA Neurol - November 2016Rita Horvath & Patrick F. Chinnery
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Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
Brain - Journal of Neurology - November 2016Nasim Vasli, Elizabeth Harris, Jason Karamchandani, Eric Bareke, Jacek Majewski, Norma B. Romero, Tanya Stojkovic, Rita Barresi, Hichem Tasfaout, Richard Charlton, Edoardo Malfatti, Johann Bohm, Chiara Marini-Bettolo, Karine Choquet, Marie-Josée Dicaire, Yi-Hong Shao, Ana Topf, Erin O’Ferrall, Bruno Eymard, Volker Straub, Gonzalo Blanco, Hanns Lochmüller, Bernard Brais, Jocelyn Laporte, Martine Tétreault
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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
American Journal of Human Genetics - November 2016Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Olafur Magnusson, Sebahattin Cirak, Katta M. Girisha, Mary O’Driscoll, Bart Loeys, Brunhilde Wirth
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Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement
Neurology - October 2016Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M.
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Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3
Scientific Reports, volume 6, p.35200 - October 2016Lodewijk J. A. Toonen, Iris Schmidt, Martijn S. Luijsterburg, Haico van Attikum & Willeke M. C. van Roon-Mom
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New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration
The FASEB Journal, volume 3 - October 2016Svitlana Pasteuning-Vuhman, Johanna Boertje-van der Meulen, Maaike van Putten, Maurice Overzier, Peter ten Dijke, Szymon M. Kiełbasa, Wibowo Arindrarto, Ron Wolterbeek, Ksenia V. Lezhnina, Ivan V. Ozerov, Aleksandr M. Aliper, Willem M. Hoogaars, Annemieke Aartsma-Rus & Cindy J. M. Loomans
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Analysis of the prion protein gene in multiple system atrophy
Neurobiology of Aging - October 2016Viorica Chelban, Andreea Manole, Lasse Pihlstrøm, Lucia Schottlaender, Stephanie Efthymiou, Emer OConnor, Wassilios Meissner, Janice L. Holton, Henry Houlden
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Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)
Stem Cell Research, volume 17, issue 2, p.437–440 - September 2016Stefan Hauser, Philip Höflinger, Yvonne Theurer, Tim W Rattay, Ludger Schöls
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
American Journal of Human Genetics, volume 99, p.1-9 - September 2016Stéphanie Bauché, Seana O’Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci1, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
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Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
Neurology: Genetics, volume 2, issue 5, p.98 - August 2016Jennifer Hirst, Marianna Madeo, Katrien Smets, James R. Edgar, Ludger Schols, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken, Jan De Bleecker, Manuel B. Datiles III, Ricardo H. Roda, Joachim Liepert, Stephan Züchner, Caterina Mariotti, Peter De Jonghe, Craig Blackstone and Michael C. Kruer.
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Severe axonal neuropathy is a late manifestation of SPG11
Journal of Neurology, p.1-9 - August 2016Andreea Manole, Viorica Chelban, Nourelhoda A. Haridy, Sherifa A. Hamed, Andrés Berardo, Mary M. Reilly, Henry Houlden
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Molecular chaperones in the pathogenesis of Amyotrophic Lateral Sclerosis: the role of HSPB1
Human Mutation - August 2016Simona Capponi , Thomas Geuens, Alessandro Geroldi, Paola Origone, Simonetta Verdiani, Elena Cichero, Elias Adriaenssens, Vicky De Winter, Monica Bandettini di Poggio, Marco Barberis, Adriano Chiò, Paola Fossa, Paola Mandich, Emilia Bellone and Vincent Timmerman.
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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype
American Journal of Human Genetics - August 2016Seyyedmohsen Hosseinibarkooie, Miriam Peters, Laura Torres-Benito, Raphael H. Rastetter, Kristina Hupperich, Andrea Hoffmann, Natalia Mendoza-Ferreira, Anna Kaczmarek, Eva Janzen, Janine Milbradt, Tobias Lamkemeyer, Frank Rigo, C. Frank Bennett, Christoph Guschlbauer, Ansgar Büschges, Matthias Hammerschmidt, Markus Riessland, Min Jeong Kye, Christoph S. Clemen, Brunhilde Wirth
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The Clinical Outcome Study for dysferlinopathy
Neurology: Genetics, volume 2, issue 4, p.89 - August 2016Elizabeth Harris, MBBS, Catherine L. Bladen, PhD, Anna Mayhew, PhD, Meredith James, PT, Karen Bettinson, MSc, Ursula Moore, MBBChir, Fiona E. Smith, PhD, Laura Rufibach, PhD, Avital Cnaan, PhD, Diana X. Bharucha-Goebel, MD, Andrew M. Blamire, PhD, Elena Bravver, MD, Pierre G. Carlier, MD, PhD, John W. Day, MD, PhD, Jordi Díaz-Manera, MD, PhD, Michelle Eagle, PT, PhD, Ulrike Grieben, MD, Matthew Harms, MD, Kristi J. Jones, MD, PhD, Hanns Lochmüller, MD, Jerry R. Mendell, MD, Madoka Mori-Yoshimura, MD, Carmen Paradas, MD, PhD, Elena Pegoraro, MD, PhD, Alan Pestronk, MD, Emmanuelle Salort-Campana, MD, Olivia Schreiber-Katz, MD, Claudio Semplicini, MD, Simone Spuler, MD, Tanya Stojkovic, MD, Volker Straub, MD, Shin'ich Takeda, MD, PhD, Carolina Tesi Rocha, MD, M.C. Walter, MD, MA, Kate Bushby, MD; For the Jain COS Consortium.
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Optimisation of internally deleted dystrophin constructs
Human Gene Therapy Methods - July 2016Dr. Mojgan Reza, Dr. Steven Hector Laval, Miss Stephanie Jan Carr, and Prof. Hanns Lochmüller
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Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing and Interpretation
Human Mutation - July 2016Torres-Español, M., Anvar, S. Y. and Sobrido, M.-J.
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Diminishing return for mechanistic therapeutics with neurodegenerative disease duration?
BioEssays - July 2016David Rubinsztein, Harry T. Orr
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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
Cell Reports - June 2016Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B. Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudry
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Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
Brain - Journal of Neurology, volume 139, issue 6 - June 2016Emily O’Connor, Ana Töpf, Juliane S. Müller, Daniel Cox, Teresinha Evangelista, Jaume Colomer, Angela Abicht, Jan Senderek, Oswald Hasselmann, Ahmet Yaramis, Steven H. Laval, Hanns Lochmüller
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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
Brain - Journal of Neurology, volume 139, issue 6 - June 2016John Vissing, Rita Barresi, Nanna Witting, Marijke Van Ghelue, Lise Gammelgaard, Laurence A. Bindoff, Volker Straub, Hanns Lochmüller, Judith Hudson, Christoph M. Wahl, Snjolaug Arnardottir, Kathe Dahlbom, Christoffer Jonsrud, Morten Duno
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The risk of re-identification versus the need to identify individuals in rare disease research
European Journal of Human Genetics - May 2016Mats G Hansson, Lochmüller Hanns, Riess Olaf, Schaefer Franz, Orth Michael, Rubinstein Yaffa, Molster Caron, Hugh Dawkins, Taruscio Domenica, Posada Manuel and Woods Simon
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Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Brain A Journal of Neurology, volume 139, issue 6 - May 2016Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucia Schottlaender, Christos Proukakis, Huw Morris, Tom Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew B. Singleton, John Hardy, Nicholas W. Wood, Patrick A. Lewis, Henry Houlden
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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum
Brain - Journal of Neurology, volume 139, issue 5, p.1378-1393 - May 2016Inès Mademan, Florian Harmuth, Ilaria Giordano, Dagmar Timmann, Stefania Magri, Tine Deconinck, Jens Claaßen, Daniel Jokisch, Gencer Genc, Daniela Di Bella, Silvia Romito, Rebecca Schüle, Stephan Züchner, Franco Taroni, Thomas Klockgether, Ludger Schöls, Peter De Jonghe, Peter Bauer, EOA Consortium, Jonathan Baets, Matthis Synofzik
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
American Journal of Human Genetics, volume 98, issue 5, p.1020-1029 - May 2016Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog, Mariëlle Wohlgemuth, Mari Auranen, Satomi Mitsuhashi, Patrick J. van der Vliet, Kirsten R. Straasheijm, Rob F.P. van den Akker, Marjolein Kriek, Marlies E.Y. Laurense-Bik, Vered Raz, Monique M. van Ostaijen-ten Dam, Kerstin B.M. Hansson, Elly L. van der Kooi, Sari Kiuru-Enari, Bjarne Udd, Maarten J.D. van Tol, Ichizo Nishino, Rabi Tawil, Stephen J. Tapscott, Baziel G.M. van Engelen, Silvère M. van der Maarel
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Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus
Journal of Neuromuscular Diseases, p.1-18 - May 2016Bouhy Delphine, Geuens Thomas, De Winter Vicky, De Almeida Souza Leonardo, Katona Istvan, Weis Joachim, Hochepied Tino, Goossens Steven, Haigh Jody J., Janssens Sophie, Timmerman Vincent
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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large scale multi-centre study
Brain - Journal of Neurology, volume 139, issue 4 - April 2016Matthis Synofzik, Katrien Smets, Martial Mallaret
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‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research
European Journal of Human Genetics - April 2016Pauline McCormack, Anna Kole, Sabina Gainotti, Deborah Mascalzoni, Caron Molster, Hanns Lochmüller and Simon Woods
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Limb-girdle muscular dystrophies — international collaborations for translational research
Nature Reviews Neurology - April 2016Rachel Thompson & Volker Straub
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Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
Journal of Neurology, p.1-8 - April 2016Teresinha Evangelista, Libby Wood, Roberto Fernandez-Torron, Maggie Williams, Debbie Smith, Peter Lunt, Judith Hudson, Fiona Norwood, Richard Orrell, Tracey Willis, David Hilton-Jones, Karen Rafferty, Michela Guglieri, Hanns Lochmüller
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Autologous skeletal muscle novel functional DMD
Scientific Reports 6 Article number: 19750 - January 2016Jinhong Meng, John R. Counsell, Mojgan Reza, Steven H. Laval, Olivier Danos, Adrian Thrasher, Hanns Lochmüller, Francesco Muntoni & Jennifer E. Morgan
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KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
Journal of Neurology, p.1-7 - January 2016D. Natera-de Benito, A. Nascimento, A. Abicht, C. Ortez, C. Jou, J. S. Müller, T. Evangelista, A. Töpf, R. Thompson
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Mitochondria-associated membranes as hubs for neurodegeneration
Acta Neuropathologica, volume 131, issue 4, p.505-523 - January 2016Michiel Krols, Gert van Isterdael, Bob Asselbergh, Anna Kremer, Saskia Lippens, Vincent Timmerman, Sophie Janssens
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Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease
PNAS, volume Early Edition - December 2015Muzamil Majid Khan, Danilo Lustrinod, Willian A. Silveirad... Rüdiger Rudolfa
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Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
Biomolecules, volume 2015, issue 5, p.2758-2781 - October 2015Qiushi Chen, Juliane S. Muller, Poh-Choo Pang, Steve H. Laval, Stuart M. Haslam, Hanns Lochmüller and Anne Dell
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Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy
Journal of Neuromuscular Diseases, volume 2, issue 3, p.241-255 - September 2015Peter M. Burch, Oksana Pogoryelova, Richard Goldstein, Donald Bennett, Michela Guglieri, Volker Straub, Kate Bushby, Hanns Lochmüller and Carl Morris
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GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
Neuromuscular Disorders, volume 25, issue 9, p.713-718 - September 2015Chamovaa T., Guergueltchevaa V., Gospodinova M. ... Tournev I.
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TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
Neurobiology of Aging - August 2015Le Ber, I., de Septenville A., Millecamps S. ... Brice A.
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Circulating Biomarkers for Duchenne Muscular Dystrophy
Journal of Neuromuscular Diseases, issue Festschrift to honour Lord Walton of Detchant and to celebrate the inauguration of the Newcastle University Muscular Dystrophy Research Centre bearing his name - July 2015Aartsma-Rus A., Spitali , P.
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Investigational therapies for the treatment of spinal muscular atrophy
Expert Opinion on Investigational Drugs, volume 24, issue 7, p.867-881 - July 2015Kaczmarek A., Schneider S., Wirth B., Riessland M.
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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
Brain, volume 138, issue 9, p.2493-2504 - June 2015Katsiaryna Belaya, Pedro M. Rodrìguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E. Farrugia, Richard Petty, Timothy J. Walls, Maryam Sedghi, Keivan Basiri, Wyatt W. Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni and David Beeson
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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
Brain - June 2015Brozkova D.S,, Deconinck T., Griffin L.B. ... Baets J.
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Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations
Journal of Neurology, volume 262, issue 8, p.1961-1971 - June 2015Lindig T., Bender B., Hauser T-K. ... Rattay T.W.
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Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland
Journal of Neurology - June 2015Bansagi B., Antoniadi T., Burton-Jones S. ... Horvath R.
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Special Issue: Abstracts of the 1st Congress of the European Academy of Neurology, Berlin, Germany, June 2015
European Journal of Neurology, volume 22, issue Supplement 1, p.1-20 - June 2015Straub V.
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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Brain, volume 138, issue 8, p.2191-2205 - May 2015Coutelier M., Goizet C., Durr A. ... Stevanin G.
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Moving towards treatments for spinal muscular atrophy: hopes and limits
Expert Opinion on Emerging Drugs - April 2015Wirth B., Barkats M., Martinat C., Sendtner M., Gillingwater T.H.
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GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia
Neurology - April 2015Coutelier M., Burglen L., Mundwiller E. ...Durr A.