Below we have included a number of publications that may be of interest to those connected with the project.

This is by no means an exhaustive list and if you feel you have a recent publication that mentions the NeurOmics project or not that should be included on this page, please contact Cathy Turner.

• Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target
  Neuropathology and Applied Neurobiology, volume 4, issue 7, p.873-887 - December 2014
  Rachael A. Powis, Chantal A. Mutsaers, Thomas. M. Wishart, Gillian Hunter, Brunhilde Wirth, Thomas H. Gillingwater
  
  
• Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
  Brain, volume 137, issue 9, p.2429-43 - September 2014
  Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.
  
  
• SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
  The American Journal of Human Genetics, volume 95, issue 2, p.218–226 - August 2014
  Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C. Swanson, Göknur Haliloğlu, Beril Talim, Kyle S. Yau, Richard J.N. Allcock, Nigel G. Laing, Mark A. Perrella, Alan H. Beggs
  
  
• A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
  Brain - A Journal of Neurology, volume 137, issue 8, p.2329-2345 - June 2014
  Banwarth S, Ait-El-Mkadem S, Chaussenot A, Genin E.C, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D.G, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H,Pouget J, Paquis-Flucklinger V.
  
  
• Congenital/ultrastructural myopathies
  Oxford Textbook of Neuromuscular Disorders - May 2014
  Gianina Ravenscroft, Nigel F. Clarke, Nigel G. Laing
  
  
• Dementia and amyotrophic lateral sclerosis through
  American Journal of Medical Genetics Part A, volume 164, issue 7, p.1846–1849 - April 2014
  Barnett C, Todd E, Ong R, Davis M, Atkinson V, Allcock R, Laing N & Ravenscroft G
  
  
• Antisense-Mediated Exon Skipping: Networking to Meet Opportunities and to Overcome Challenges
  Nucleic Acid Therapeutics, volume 24, issue 1 - February 2014
  Annemieke Aartsma-Rus
  
  
• Antisense-mediated exon skipping: networking to meet opportunities and to overcome challenges
  Nucleic Acid Therapeutics, volume 24, issue 1 - February 2014
  Aartsma-Rus AM
  
  
• C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
  Neurology, volume 82, issue 4, p.292-299 - January 2014
  Hensman Moss DJ1, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ.
  
  
• DMD transcript imbalance determines dystrophin levels
  FASEB J, volume 27, issue 12, p.4909-4916 - December 2013
  Spitali P, van den Bergen JC, IEC, Wokke B, Janson AAM, van den Eijnde R, den Dunnen JT, Laros JFJ, Verschuuren JJGM, ’t Hoen PAC and Aartsma-Rus A
  
  
• The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases
  Orphanet Journal of Rare Diseases 2013, volume 8, issue 171 - December 2013
  Sunil Rodger, Hanns Lochmüller, Adrian Tassoni, Kathrin Gramsch, Kirsten König, Kate Bushby, Volker Straub, Rudolf Korinthenberg, Janbernd Kirschner
  
  
• Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
  The American Journal of Human Genetics, volume 93, issue 6, p.1108-17 - December 2013
  Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH
  
  
• 194th ENMC international workshop
  Neuromuscular Disorders, volume pii: S0960-8966(13)00538-5 - November 2013
  Aartsma-Rus A. and Muntoni F.
  
  
• Exon Skipping and Gene Transfer Restore Dystrophin Expression in Human Induced Pluripotent Stem Cells-Cardiomyocytes Harboring DMD Mutations
  Stem Cells Dev., volume 22, issue 20, p.2714-2724 - October 2013
  Emily Dick, Spandan Kalra, David Anderson, Vinoj George, Morten Ritso, Steven H. Laval, Rita Barresi, Annemieke Aartsma-Rus, Hanns Lochmüller, and Chris Denning
  
  
• Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon
  Neurobiol Dis., volume 58, p.49-56 - October 2013
  Evers MM, Tran HD, Zalachoras I, Pepers BA, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM.
  
  
• Animal models and therapeutic prospects for Charcot–Marie–Tooth disease
  Annals of Neurology, volume 74, issue 3, p.391–396 - September 2013
  Delphine Bouhy, Vincent Timmerman
  
  
• Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle
  Hum Mol Genet., volume 22, issue 21, p.4368-4382 - June 2013
  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.
  
  
• Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
  The American Journal of Human Genetics, volume 92, issue 6, p.946–954 - June 2013
  Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker, Angelien Heister, Aad Verrips, Seyyed Mohsen Hosseini-Barkooie, Christian Gilissen, Sascha Vermeer, Maartje Pennings, Rowdy Meijer, Margot te Riele, Catharina J.M. Frijns, Oksana Suchowersky, Linda MacLaren, Sabine Rudnik-Schöneborn, Richard J. Sinke, Klaus Zerres,
  R. Brian Lowry, Henny H. Lemmink, Lutz Garbes, Joris A. Veltman, Helenius J. Schelhaas, Hans Scheffer, Brunhilde Wirth
  
  
• Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
  The American Journal of Human Genetics, volume 92, issue 6, p.955–964 - June 2013
  Kristien Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida-Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, Magdalena Zimon, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms, Vincent Timmerman, Ivailo Tournev and Albena Jordanova
  
  
• Dose-dependent pharmacokinetic profiles of 2′-O-methyl phosphorothioate antisense oligonucleotidesin mdx mice
  Nucleic Acid, volume 23, issue 3, p.228-237 - June 2013
  Verhaart IE, Tanganyika-de Winter CL, Karnaoukh TG, Kolfschoten IG, de Kimpe SJ, van Deutekom JC, Aartsma-Rus A.
  
  
• Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice
  FASEB J., volume 27, issue 6, p.2484-2495 - June 2013
  van Putten M, Hulsker M, Young C, Nadarajah VD, Heemskerk H, van der Weerd L, 't Hoen PA, van Ommen GJ, Aartsma-Rus AM
  
  
• Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments
  Acta Neuropathol, volume 126, issue 1, p.93-108 - June 2013
  Holmgren A, Bouhy D, De Winter V, Asselbergh B, Timmermans JP, Irobi J, Timmerman V
  
  
• Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy
  J Neurol Neurosurg Psychiatry, volume 2014, issue 85, p.92-98 - May 2013
  van den Bergen JC, Schade van Westrum SM, Dekker L, van der Kooi AJ, de Visser M, Wokke BH, Straathof CS, Hulsker MA, Aartsma-Rus A, Verschuuren JJ, Ginjaar HB
  
  
• Innovating therapies for muscle diseases
  Handb Clin Neurol., volume 2013, issue 113, p.1497-1501 - April 2013
  Aartsma-Rus A, Van Ommen GJ, Kaplan JC.
  
  
• Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.
  Brain, volume 136, issue Pt 3, p.905-17 - March 2013
  Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, Boguslawska R, Schöls L, Linnemann C, Mariotti C, Grisoli M, Dürr A, van de Warrenburg BP, Timmann D, Pandolfo M, Bauer P, Jacobi H, Hauser TK, Klockgether T, Schulz JB; axia Study Group Investigators
  
  
• 204th ENMC international workshop on biomarkers in Duchenne Muscular Dystrophy 24_26 January 2014, Naarden, The Netherlands
  Neuromuscular Disorders, volume 24, issue 8, p.721–725
  Finsterer, J
  
  
• Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges
  
  Sevy Amandine