Newcastle University

Introduction

Hanns is scientific coordinator of EuroBioBank (www.eurobiobank.org) and also partner of TREAT-NMD (www.treat-nmd.eu), led by Professors Straub and Bushby. Before coming to Newcastle University in 2007, Hanns was based at Ludwig-Maximilians-University in Munich, Germany. Hanns carried out his Postdoctoral fellowship at McGill University, in Montreal, Canada. Research focuses on molecular genetics of inherited myopathies and neuromuscular junction disorders, and further study of animal models of these disorders. Research is funded by Medical Research Council (MRC), Muscular Dystrophy Campaign (MDC) and Lundbeck Foundation. He holds the role of Principal Investigator for MRC Centre for Neuromuscular Disease at the IHG.

Research Interests

Neuromuscular research

Neuromuscular research group within the Institute of Human Genetics is a multidisciplinary team involving clinically based as well as laboratory researchers. Professors Straub and Bushby (see separate entries), both clinical academics with joint appointments between Newcastle University and the NHS, will be joined by Professor Lochmüller, the newly appointed chair of experimental myology (effective July 1st, 2007). Together with Professor Chinnery and Professor Turnbull we shall form the Newcastle branch of the MRC centre for neuromuscular disease.

Professor Lochmüller has a long-standing interest in the molecular genetics of the inherited myopathies and neuromuscular junction disorders, and is interested in the further study of animal models of these disorders as a means to understand their pathophysiology as well as to develop means to monitor disease progression and therapeutic interventions. Ongoing work in these areas in cell and animal models of muscular dystrophy is concentrating on gene transfer, pharmacological interventions and cell therapy.

Translational efforts in these rare disorders will inevitably have an international context. Professors Straub and Bushby are co-ordinating a European Union Network of Excellence for the development of translational research in rare neuromuscular diseases (TREAT-NMD, www.treat-nmd.eu) with 21 partners in 12 countries, including national networks, clinical and research centres, charities and companies. The aim of the network is to reduce fragmentation of efforts in this area, thereby accelerating the progress of promising therapeutic targets into clinical practice. Professor Straub and Professor Lochmüller jointly coordinate the German muscular dystrophy network, MD-NET (www.md-net.org).

Professor Lochmüller is the scientific coordinator of EuroBioBank (www.eurobiobank.org), a European network of biobanks for rare disorders. The network is currently composed of 14 members from 7 European countries including 11 academic or private biobanks and Eurordis (European Organisation for Rare Diseases) who initiated and coordinates the network. Rare diseases are devastating and patients urgently need treatments and better care. By creating a critical mass of collections and facilitating the exchange of biological material, the EuroBioBank network helps accelerate future research progress on these diseases.

Co-workers

• Senderek 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, Jimenez Mallebrera C, 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. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. American Journal of Human Genetics 2011, 88(2), 162-172.
• Chiu YH, Hornsey MA, Klinge L, Jorgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmuller H, Bushby K. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Human Molecular Genetics 2009, 18(11), 1976-1989.
• Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. American Journal of Human Genetics 2009, 84(4), 511-518.
• Brabec P, Vondráček P, Klimeš D, Baumeister S, Lochmüller H, Pavlík T, Gregor J. Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscular Disorders 2009, 19(4), 250-254.
• Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby KMD. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 2009, 132(1), 147-155.
• Jorgensen LH, Larochelle N, Orlopp K, Dunant P, Dudley RWR, Stucka R, Thirion C, Walter MC, Laval SH, Lochmuller H. Efficient and Fast Functional Screening of Microdystrophin Constructs In Vivo and In Vitro for Therapy of Duchenne Muscular Dystrophy. Human Gene and Cell Therapy 2009, 20(6), 641-650.
• Baumeister S, Todorovic S, Walter MC, Dekomien G, Lochmüller H. Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.. Neuromuscular Disorders 2009, 19(2), 167-171.
• Horvath R, Bender A, Abicht A, Holinski-Feder E, Czermin B, Trips T, Schneiderat P, Lochmuller H, Klopstock T. Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia. Journal of Neurology 2009, 256(5), 810-815.
• Bulst S, Abicht A, Holinski-Feder E, Muller-Ziermann S, Koehler U, Thirion C, Walter MC, Stewart JD, Chinnery PF, Lochmuller H, Horvath R. In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. Human Molecular Genetics 2009, 18(9), 1590-1599.
• Waschbisch A, Meuth SG, Herrmann AM, Wrobel B, Schwab N, Lochmüller H, Wiendl H. Intercellular exchanges of membrane fragments (trogocytosis) between human muscle cells and immune cells: a potential mechanism for the modulation of muscular immune responses. Journal of Neuroimmunology 2009, 209(1-2), 131-138.
• Hicks D, Lampe A, Laval S, Allamand V, Jimenez-Mallebrera C, Walter M, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby K. Response to letter from Bernardi. Brain 2009. GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND: OXFORD UNIV PRESS, 132(10), e122.
• Sárközy A, Bushby KMD, Béroud C, Lochmüller HKM. 157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands. Neuromuscular Disorders 2008, 18(12), 997-1001.
• Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Schröder R. Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscul Disord 2008, 18(6), 475-482.
• Thornhill P, Bassett D, Lochmuller H, Bushby K, Straub V. Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain 2008, 131(6), 1551-1561.
• Heuss D, Klascinski J, Schubert SW, Moriabadi T, Lochmüller H, Hashemolhosseini S. Examination of transcript amounts and activity of protein kinase CK2 in muscle lysates of different types of human muscle pathologies. Molecular and Cellular Biochemistry 2008, 316(1-2), 135-140.
• Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmuller H, Kress W, Udd B. High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. Journal of Neurology 2008, 255(11), 1731-1736.
• Waschbisch A, Wintterle S, Lochmüller H, Walter MC, Wischhusen J, Kieseier BC, Wiendl H. Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle-immune interactions.. Arthritis & Rheumatism 2008, 58(11), 3600-8.
• Schwab N, Waschbisch A, Wrobel B, Lochmüller HKM, Sommer C, Wiendl H. Human myoblasts modulate the function of antigen-presenting cells. Journal of Neuroimmunology 2008, 200(1-2), 62-70.
• Guglieri M, Straub V, Bushby K, Lochmüller H. Limb-girdle muscular dystrophies. Current Opinion in Neurology 2008, 21(5), 576-584.
• Lochmuller HKM. M.I.3: Congenital myasthenic syndromes - Diagnosis and therapy. In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, Newcastle upon Tyne, UK: Elsevier Ltd.
• Lochmüller HKM, Griggs RC. New treatments for neuromuscular disease: optimism and obstacles. Neurotherapeutics 2008, 5(4), 497-498.
• Hjermind LE, Vissing J, Asmus F, Krag T, Lochmüller H, Walter MC, Erdal J, Blake DJ, Nielsen JE. No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. European Journal of Neurology 2008, 15(5), 525-529.
• Schessl J, Walter MC, Schreiber G, Schara U, Müller CR, Lochmüller H, Bönnemann CG, Korinthenberg R, Kirschner J. Phenotypic variability in siblings with calpainopathy (LGMD2A). Acta Myologica 2008, 27, 54-58.
• Müller OJ, Lochmüller HKM. Sarcoglycans take center stage in gene transfer therapy. Neurology 2008,71 4 234-235.
• Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology 2008, 71(24), 1967-1972.
• Schara U, Lochmüller HKM. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics 2008, 5(4), 542-547.
• Schoser BG, Muller-Hocker J, Horvath R, Gempel K, Pongratz D, Lochmuller H, Muller-Felber W. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathology and Applied Neurobiology 2007, 33(5), 544-559.
• Krause S, Gohringer T, Walter MC, Schoser BG, Reilich P, Linn J, Popperl GE, Frolich L, Hentschel F, Lochmuller H, Danek A. Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. Clinical Neuropathology 2007, 26(5), 232-240.
• Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmuller H, Ben-Bassat H, Mitrani-Rosenbaum S. Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events. Cell Death & Differentiation 2007, 14(11), 1916-1924.
• Barisic N, Jakic-Razumovic J, Harjacek M, Fanin M, Lochmuller H, Lehman I, Angelini C. Childhood dermatomyositis associated with intracranial tumor and liver cysts. European Journal of Paediatric Neurology 2007, 11(2), 76-80.
• Rohkamm B, Reilly MM, Lochmuller H, Schlotter-Weigel B, Barisic N, Schols L, Nicholson G, Pareyson D, Laura M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. Journal of the Neurological Sciences 2007, 263(1-2), 100-106.
• Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmuller H. GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology 2007, 69(7), 655-9.
• Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmuller H, Horvath R, Freisinger P, Sperl W. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. American Journal of Human Genetics 2007, 80(3), 478-484.
• Horvath R, Kley RA, Lochmuller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007, 68(1), 56-8.
• Hubbers CU, Clemen CS, Kesper K, Boddrich A, Hofmann A, Kamarainen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmuller H, Wanker EE, Schoser BG, Noegel AA, Schroder R. Pathological consequences of VCP mutations on human striated muscle. Brain 2007, 130(2), 381-393.
• Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Äärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007, 130(6), 1497-1506.
• Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause K-H, Klutzny U, Bulst S, Frey JR, Lochmüller H. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain: A Journal of Neurology 2007, 130(6), 1485-1496.
• Janiesch PC, Kim J, Mouysset J, Barikbin R, Lochmuller H, Cassata G, Krause S, Hoppe T. The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. Nature Cell Biology 2007, 9(4), 379-390.
• Lochmuller H, Wehnert M. What message does the nuclear envelope hold?. Neurology 2007. US: Lippincott Williams & Wilkins, 68(22), 1879-1880.
• Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Ploger H, Muller-Hocker J, Pongratz DE, Naini A, Di Mauro S, Lochmuller H. Coenzyme Q10 deficiency and isolated myopathy. Neurology 2006, 66(2), 253-255.
• Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 2006, 313(5795), 1975-1978.
• Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmuller H, Hubner C, Mundlos S. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. American Journal of Human Genetics 2006, 79(2), 303-312.
• Schreiner B, Voss J, Wischhusen J, Dombrowski Y, Steinle A, Lochmuller H, Dalakas M, Melms A, Wiendl H. Expression of toll-like receptors by human muscle cells in vitro and in vivo: TLR3 is highly expressed in inflammatory and HIV myopathies, mediates IL-8 release and up-regulation of NKG2D-ligands. FASEB Journal 2006, 20(1), 118-120.
• Schroers A, Kley RA, Stachon A, Horvath R, Lochmuller H, Zange J, Vorgerd M. Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology 2006, 66(2), 285-286.
• Muller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Muller-Felber W, Abicht A, Lochmuller H. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 2006, 67(7), 1159-1164.
• Horvath R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmuller H, Klopstock T, Jaksch M. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). Journal of Neurology, Neurosurgery and Psychiatry 2006, 77(1), 74-76.
• Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 2006, 129(7), 1674-1684.
• Skeie GO, Aurlien H, Muller JS, Lochmuller H, Norgard G, Bindoff LA. Unusual features in a boy with the rapsyn N88K mutation. Neurology 2006, 67(12), 2262-2263.
• Muller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmuller H, Abicht A. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. Neurology 2005,65 3 463-465.
• Soltanzadeh P, Muller JS, Ghorbani A, Abicht A, Lochmuller H, Soltanzadeh A. An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). Journal of Neurology, Neurosurgery and Psychiatry 2005. ,76 7 1039-1040.
• Endesfelder S, Kliche A, Lochmuller H, von Moers A, Speer A. Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients' primary skeletal myoblasts. Journal of Molecular Medicine 2005,83 1 64-71.
• Horvath R, Walter MC, Lochmuller H, Hubner A, Karcagi V, Piko H, Timar L, Komoly S. Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family. Ideggyogyaszati szemle 2005, 58(1-2), 52-58.
• Barisic N, Muller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmuller H, Abicht A. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. European Journal of Paediatric Neurology 2005,9 1 7-12.
• Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmuller H, Wrogemann K. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Annals of Neurology 2005,57 4 591-595.
• Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmuller H, Wilhelm K, Urbach H, Schroder R. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. Journal of Neurology 2005,252 5 538-547.
• Krause S, Hinderlich S, Amsili S, Horstkorte R, Wiendl H, Argov Z, Mitrani-Rosenbaum S, Lochmuller H. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Experimental Cell Research 2005, 304(2), 365-379.
• Brummer D, Walter MC, Palmbach M, Knirsch U, Karitzky J, Tomczak R, Braun C, Grundhoff N, Bornemann A, Muller CR, Lochmuller H, Schreiber H. Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. Acta Myologica 2005,24 1 6-16.
• Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nature Genetics 2005,37 11 1207-1209.
• Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics 2005,37 12 1312-1314.
• Salama I, Hinderlich S, Shlomai Z, Eisenberg I, Krause S, Yarema K, Argov Z, Lochmuller H, Reutter W, Dabby R, Sadeh M, Ben-Bassat H, Mitrani-Rosenbaum S. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochemical and Biophysical Research Communications 2005, 328(1), 221-226.
• Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Annals of Neurology 2005,57 3 415-424.
• Lavigne MD, Pohlschmidt M, Novo JF, Higgins B, Alakhov V, Lochmuller H, Sakuraba H, Goldspink G, MacDermot K, Gorecki DC. Promoter dependence of plasmid-pluronics targeted alpha galactosidase A expression in skeletal muscle of Fabry mice. Molecular Therapy 2005,12 5 985-990.
• Busch V, Gempel K, Hack A, Muller K, Vorgerd M, Lochmuller H, Baumeister FA. Treatment of glycogenosis type V with ketogenic diet. Annals of Neurology 2005,58 2 341.
• Molnar MJ, Gilbert R, Lu Y, Liu AB, Guo A, Larochelle N, Orlopp K, Lochmuller H, Petrof BJ, Nalbantoglu J, Karpati G. Factors influencing the efficacy, longevity, and safety of electroporation-assisted plasmid-based gene transfer into mouse muscles. Molecular Therapy 2004, 10(3), 447-455.
• Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, Pongratz DE, Toyka KV, Lochmuller H, Ricker K. Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle & Nerve 2004, 29(2), 275-281.
• Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Mutation history of the roma/gypsies. American Journal of Human Genetics 2004,75 4 596-609.
• Mullner-Eidenbock A, Moser E, Klebermass N, Amon M, Walter MC, Lochmuller H, Gooding R, Kalaydjieva L. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology 2004, 111(7), 1415-1423.
• Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmuller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JNS, Turnbull DM. Risk of developing a mitochondrial DNA deletion disorder. The Lancet 2004, 364(9434), 592-596.
• Muller JS, Petrova S, Kiefer R, Stucka R, Konig C, Baumeister SK, Huebner A, Lochmuller H, Abicht A. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Neuropediatrics 2004, 35(3), 183-189.
• Lampe JB, Gossrau G, Kempe A, Fussel M, Schwurack K, Schroder R, Krause S, Kohnen R, Walter MC, Reichmann H, Lochmuller H. Analysis of HLA class I and II alleles in sporadic inclusion-body myositis. Journal of Neurology 2003,250 11 1313-1317.
• Dunant P, Larochelle N, Thirion C, Stucka R, Ursu D, Petrof BJ, Wolf E, Lochmuller H. Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice. Molecular Therapy 2003, 8(1), 80-89.
• Dunant P, Walter MC, Karpati G, Lochmuller H. Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003, 27(5), 624-627.
• Kubisch C, Schoser BG, von During M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmuller H, Schroder JM, Bruning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Annals of Neurology 2003, 53(4), 512-520.
• Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NMLA, Lochmuller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloglu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schoneborn S, Hubner C. Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1). Annals of Neurology 2003,54 6 719-724.
• Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmuller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Human Mutation 2003, 22(2), 129-135.
• Muller JS, Mildner G, Muller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmuller H, Abicht A. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003, 60(11), 1805-1810.
• Brun C, Suter D, Pauli C, Dunant P, Lochmuller H, Burgunder JM, Schumperli D, Weis J. U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping. Cellular and Molecular Life Sciences 2003,60 3 557-66.
• Abicht A, Stucka R, Schmidt C, Briguet A, Höpfner S, Song I-H, Pongratz D, Müller-Felber W, Ruegg MA, Lochmüller H. A newly identified chromosomal microdeletion and an N-box mutation of the AChRε gene cause a congenital myasthenic syndrome. Brain 2002, 125(5), 1005-1013.
• Barisic N, Schmidt C, Sidorova OP, Herczegfalvi A, Gekht BM, Song IH, Stucka R, Karcagi V, Abicht A, Lochmuller H. Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene. Neuropediatrics 2002, 33(5), 249-254.
• Krause KH, Dresel S, Krause J, Kung HF, Tatsch K, Lochmuller H. Elevated striatal dopamine transporter in a drug naive patient with Tourette syndrome and attention deficit/ hyperactivity disorder: positive effect of methylphenidate. Journal of Neurology 2002, 249(8), 1116-1118.
• Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology 2002, 58(2), 231-236.
• Larochelle N, Oualikene W, Dunant P, Massie B, Karpati G, Nalbantoglu J, Lochmuller H. The short MCK1350 promoter/enhancer allows for sufficient dystrophin expression in skeletal muscles of mdx mice. Biochemical and Biophysical Research Communications 2002, 292(3), 626-631.
• Abicht A, Lochmuller H. What's in the serum of seronegative MG and LEMS?: MuSK et al. Neurology 2002, 59(11), 1672-1673.
• Jaksch M, Paret C, Stucka R, Horn N, Muller-Hocker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Muller J, Lunkwitz R, Rodel G, Shoubridge EA, Lochmuller H. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Human Molecular Genetics 2001, 10(26), 3025-3035.
• Jahn K, Mohammadi B, Krampfl K, Abicht A, Lochmuller H, Bufler J. Deactivation and desensitization of mouse embryonic- and adult-type nicotinic receptor channel currents. Neuroscience Letters 2001, 307(2), 89-92.
• Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 2001, 57(8), 1440-1446.
• Nalbantoglu J, Larochelle N, Wolf E, Karpati G, Lochmuller H, Holland PC. Muscle-specific overexpression of the adenovirus primary receptor CAR overcomes low efficiency of gene transfer to mature skeletal muscle. Journal of Virology 2001, 75(9), 4276-82.
• Lampe J, Gossrau G, Reichmann H, Walter MC, Mendel B, Lochmuller H. Prion codon 129 homozygosity and sporadic inclusion body myositis. Neurology 2001, 57(2), 368.
• OHara AJ, Howell JM, Taplin RH, Fletcher S, Lloyd F, Kakulas B, Lochmuller H, Karpati G. The spread of transgene expression at the site of gene construct injection. Muscle Nerve 2001, 24(4), 488-495.
• Karpati G, Lochmuller H. When running a stop sign may be a good thing. Annals of Neurology 2001, 49(6), 693-694.
• Horvath R, Lochmuller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochemical and Biophysical Research Communications 2000, 276(2), 530-533.
• Borner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmuller H, Pongratz D, Klopstock T, Melberg A, Holme E, Paabo S. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Human Molecular Genetics 2000, 9(4), 467-475.
• Muller-Hocker J, Schafer S, Mendel B, Lochmuller H, Pongratz D. Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature. Ultrastructural Pathology 2000, 24(6), 407-416.
• Abicht A, Lochmuller H. Technology evaluation: edrecolomab, Centocor Inc. Current Opinion in Molecular Therapeutics 2000, 2(5), 593-600.
• A. Abicht,R. Stucka,V. Karcagi,A. Herczegfalvi,R. Horvath,W. Mortier,U. Schara,V. Ramaekers,W. Jost,J. Brunner,G. Janssen,U. Seidel,B. Schlotter,W. Muller-Felber,D. Pongratz,R. Rudel ,H. Lochmuller. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 1999, 53(7), 1564-9.
• H. Lochmuller,T. Johns,E. A. Shoubridge. Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts. Exp Cell Res 1999, 248(1), 186-93.
• Lampe J, Kitzler H, Walter MC, Lochmuller HKM, Reichmann H. Methionine homozygosity at prion gene codon 129 may predispose to sporadic inclusion-body myositis. The Lancet 1999. , 353(9151), 465-466.
• A. Abicht,H. Lochmuller. Technology evaluation: CRIB (CNTF delivery) CytoTherapeutics Inc. Curr Opin Mol Ther 1999, 1(5), 645-50.
• G. H. Guibinga,H. Lochmuller,B. Massie,J. Nalbantoglu,G. Karpati,B. J. Petrof. Combinatorial blockade of calcineurin and CD28 signaling facilitates primary and secondary therapeutic gene transfer by adenovirus vectors in dystrophic (mdx) mouse muscles. J Virol 1998, 72(6), 4601-9.
• J. M. Howell,H. Lochmuller,A. O'Hara,S. Fletcher,B. A. Kakulas,B. Massie,J. Nalbantoglu,G. Karpati. High-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppression. Hum Gene Ther 1998, 9(5), 629-34.
• G. Acsadi,D. O'Hagan,H. Lochmuller,S. Prescott,N. Larochelle,J. Nalbantoglu,A. Jani,G. Karpati. Interferons impair early transgene expression by adenovirus-mediated gene transfer in muscle cells. J Mol Med 1998, 76(6), 442-50.
• W. Muller-Felber,M. Toepfer,T. Muller,J. Muller-Hocker,P. Fischer,H. Lochmuller,D. Pongratz. Tenascin is a useful marker in the diagnosis of inflammatory myopathies. Eur J Med Res 1998, 3(6), 281-7.
• H. Li,H. Lochmuller,V. W. Yong,G. Karpati,J. Nalbantoglu. Adenovirus-mediated wild-type p53 gene transfer and overexpression induces apoptosis of human glioma cells independent of endogenous p53 status. J Neuropathol Exp Neurol 1997, 56(8), 872-8.
• A. Abicht,W. Muller-Felber,P. Fischer,I. Jakob,L. Kurz ,R. Rudel ,W. Mortier,D. Pongratz,H. Lochmuller. Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients. Eur J Med Res 1997, 2(12), 515-22.
• A. Jani,H. Lochmuller,G. Acsadi,M. Simoneau,J. Huard,A. Garnier,G. Karpati,B. Massie. Generation, validation, and large scale production of adenoviral recombinants with large size inserts such as a 6.3 kb human dystrophin cDNA. J Virol Methods 1997, 64(2), 111-24.
• H. D. Durham,M. A. Alonso-Vanegas,A. F. Sadikot,L. Zhu,H. Lochmuller,B. Massie,J. Nalbantoglu,G. Karpati. The immunosuppressant FK506 prolongs transgene expression in brain following adenovirus-mediated gene transfer. Neuroreport 1997, 8(9-10), 2111-5.
• G. Acsadi,H. Lochmuller,A. Jani,J. Huard,B. Massie,S. Prescott,M. Simoneau,B. J. Petrof,G. Karpati. Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer. Hum Gene Ther 1996, 7(2), 129-40.
• B. J. Petrof,H. Lochmuller,B. Massie,L. Yang,C. Macmillan,J. E. Zhao,J. Nalbantoglu,G. Karpati. Impairment of force generation after adenovirus-mediated gene transfer to muscle is alleviated by adenoviral gene inactivation and host CD8+ T cell deficiency. Hum Gene Ther 1996, 7(15), 1813-26.
• G. Karpati,H. Lochmuller,J. Nalbantoglu,H. Durham. The principles of gene therapy for the nervous system. Trends Neurosci 1996, 19(2), 49-54.
• H. D. Durham,H. Lochmuller,A. Jani,G. Acsadi,B. Massie,G. Karpati. Toxicity of replication-defective adenoviral recombinants in dissociated cultures of nervous tissue. Exp Neurol 1996, 140(1), 14-20.
• J. Huard,H. Lochmuller,G. Acsadi,A. Jani,P. Holland,C. Guerin,B. Massie,G. Karpati. Differential short-term transduction efficiency of adult versus newborn mouse tissues by adenoviral recombinants. Exp Mol Pathol 1995, 62(2), 131-43.
• B. J. Petrof,G. Acsadi,A. Jani,B. Massie,J. Bourdon,N. Matusiewicz,L. Yang,H. Lochmuller,G. Karpati. Efficiency and functional consequences of adenovirus-mediated in vivo gene transfer to normal and dystrophic (mdx) mouse diaphragm. Am J Respir Cell Mol Biol 1995, 13(5), 508-17.
• H. Lochmuller,B. J. Petrof,C. Allen,S. Prescott,B. Massie,G. Karpati. Immunosuppression by FK506 markedly prolongs expression of adenovirus-delivered transgene in skeletal muscles of adult dystrophic [mdx] mice. Biochem Biophys Res Commun 1995, 213(2), 569-74.
• H. Lochmuller,A. Jani,J. Huard,S. Prescott,M. Simoneau,B. Massie,G. Karpati,G. Acsadi. Emergence of early region 1-containing replication-competent adenovirus in stocks of replication-defective adenovirus recombinants (delta E1 + delta E3) during multiple passages in 293 cells. Hum Gene Ther 1994, 5(12), 1485-91.
• D. Heuss,A. Engelhardt,H. Lochmuller,H. Gobel ,B. Neundorfer. Expression of growth associated protein 43 and neural cell adhesion molecule in congenital fibre type disproportion with interstitial myositis. Virchows Arch 1994, 425(1), 101-5.
• H. Lochmuller,C. D. Reimers,P. Fischer,D. Heuss,J. Muller-Hocker,D. E. Pongratz. Exercise-induced myalgia in hypothyroidism. Clin Investig 1993, 71(12), 999-1001.
• R. Stucka,C. Schwarzlose,H. Lochmuller,U. Hacker ,H. Feldmann. Molecular analysis of the yeast Ty4 element: homology with Ty1, copia, and plant retrotransposons. Gene 1992, 122(1), 119-28.
• H. Lochmuller,R. Stucka,H. Feldmann. A hot-spot for transposition of various Ty elements on chromosome V in Saccharomyces cerevisiae. Curr Genet 1989, 16(4), 247-52.
• R. Stucka,H. Lochmuller,H. Feldmann. Ty4, a novel low-copy number element in Saccharomyces cerevisiae: one copy is located in a cluster of Ty elements and tRNA genes. Nucleic Acids Res 1989, 17(13), 4993-5001.
• Chaouch A, Muller JS, Guergueltcheva V, Dusl M, Schara U, Rakocevic-Stojanovic V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmuller H. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. Journal of Neurology 2012, 259(3), 474-481.
• Wood AJ, Muller JS, Jepson CD, Laval SH, Lochmuller H, Bushby K, Barresi R, Straub V. Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency. Human Molecular Genetics 2011, 20(24), 4879-4890.
• Willis T, Hollingsworth KG, Sveen ML, Morrow JM, Sinclair CDJ, Thornton JS, Vandenheede J, Strojkovic T, Eagle M, Mayhew A, Bushby K, Lochmuller H, Hanna MG, Vissing J, Carliers P, Straub V. Assessing muscle pathology by MRI in LGMD2I. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Straub V, Aartsma-Rus A, Szigyarto CAK, Beroud C, Bonaldo P, Borgiani P, Braghetta P, Chaouch A, Cirak S, Courtot L, Daraselia N, Gelfi C, 't Hoen PAC, Kotelnikova E, Le Priol Y, Lochmueller H, Morgan J, Muntoni F, Novelli G, Paolillo N, Tanzi R, Turner C, Uhlen M, Ferlini A. BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) - An EU funded FP7 project. In: 16th International Congress of The World Muscle Society. 2011, Almancil, Algarve, Portugal: Elsevier.
• Wood AJ, Jepson CD, Laval SH, Bushby K, Lochmuller H, Barresi R, Muller J, Straub V. Generating stable FKRP mutant zebrafish lines with zinc finger nucleases. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Barisic N, Chaouch A, Muller JS, Lochmuller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. European Journal of Paediatric Neurology 2011, 15(3), 189-196.
• Colombo E, Romaggi S, Medico E, Menon R, Mora M, Falcone C, Lochmuller H, Confalonieri P, Mantegazza R, Morandi L, Farina C. Human Neurotrophin Receptor p75NTR Defines Differentiation-Oriented Skeletal Muscle Precursor Cells: Implications for Muscle Regeneration. Journal of Neuropathology and Experimental Neurology 2011, 70(2), 133-142.
• Blain AM, Greally E, Laval SH, Blamire A, Lochmuller H, Bushby K, MacGowan G, Straub VW. Manganese enhanced MRI (MEMRI) as an outcome measure for cardiac function in the mdx mouse. In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
• Martin FC, Oonk S, 't Hoen PAC, Nadarajah VD, Chaouch A, Lochmuller H, Dalebout H, van der Burgt YEM, Palmblad M, Deelder AM. Mass spectrometry based clinical proteomics for biomarker discovery in Duchenne muscular dystrophy. In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
• Spendiff S, Horvath R, Lochmüller H, Reza M, Murphy JL, Taylor RW, Turnbull DM. Mitochondrial DNA mutations in satellite cells. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Sarkozy A, Hicks D, Miller J, Walter MC, Reilich P, Radunovic A, Vaidya SS, Lochmuller H, Bushby K, Straub V. Muscle MRI findings in LGMD2L. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Horvath R, Reilich R, Krause S, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmuller H, Serdaroglu-Oflazer P. Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients. Neurology 2011, 76(3), 227-235.
• Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmuller H, Bushby K, Straub V. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. European Journal of Human Genetics 2011, 19(10), 1038-1044.
• Willis TA, Hollingsworth KG, Sveen ML, Morrow J, Vandenheede J, Strojkovic T, Eagle M, Mayhew A, Bushby K, Lochmuller H, Hanna M, Vissing J, Straub V. Quantitative MRI in LGMD2I; a longitudinal study. In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
• Nadarajah VD, van Putten M, Chaouch A, Garrood P, Straub V, Lochmuller H, Ginjaar HB, Aartsma-Rus AM, van Ommen GJB, den Dunnen JT, 't Hoen PAC. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscular Disorders 2011, 21(8), 569-578.
• 't Hoen PAC, Nadarajah VD, van Putten M, Chaouch A, Garrood P, Straub V, Ginjaar HB, Aartsma-Rus AM, van Ommen GJB, den Dunnen JT, Lochmuller H. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring Duchenne muscular dystrophy (DMD) disease progression. In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
• Reilich 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, Lochmuller H. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. Journal of Neurology 2011, 258(11), 1987-1997.
• Dick E, Matsa E, Bispham J, Reza M, Guglieri M, Staniforth A, Watson S, Kumari R, Lochmuller H, Young L, Darling D, Denning C. Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines. Stem Cell Research 2011, 6(2), 158-167.
• Assenova A, Dimova P, Bojinova V, Mihaylova V, Jordanova A, Müller J, Abicht A, Gerguelcheva V, Lochmüller H. Congenital myasthenic syndrome in two siblings with two mutations in epsilon subunit Gene of the acetylcholine receptor. Pediatriya 2010, 50(1), 33-36.
• Horvath R, Lochmüller H, Acsadi G. Metabolic stroke in childhood: Diagnostic approach and suggestions for therapy. Journal of Pediatric Neurology 2010, 8(3), 321-332.
• Sarkozy A, McKenna C, Straub V, Lochmuller H, Goldfarb LG, Bushby K. Recurrent BAG3 gene mutation in a British family with two siblings with severe myofibrillar myopathy. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford: Elsevier Ltd.
• Collins J, Hicks D, Sarkozy A, Lampe A, Norwood F, Straub V, Lochmüller H, Bushby K. EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity. In: World Muscle Society Annual Congress. 2009, Geneva, Switzerland.
• Lochmüller H, Aymé S, Pampinella F, Melegh B, Kuhn K, Antonarakis S, Meitinger T. The role of biobanking in rare diseases: European consensus expert group report. Biopreservation and Biobanking 2009, 7(3), 155-156.
• Sarkozy A, Bushby K, Hilton-Jones D, Dougan CF, Lochmuller H, Windpassinger C, Straub V. Phenotypic characterization of two unrelated UK families with X-linked myopathy and an identical mutation in the FHL1 gene. In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, Newcastle upon Tyne, UK: Elsevier Ltd.
• Chinnery P, DiMauro S, Zeviani M, Lombes A, Lochmuller H, Thorburn D, Bindoff LA, Poulton J, Deschauer M, Taylor RW, Matthews JNS, Turnbull DM. The risk of developing a mitochondrial DNA deletion disorder. In: Journal of Medical Genetics: British Human Genetics Conference. 2004, York, UK: BMJ Group.
• Gempel K, Kiechl S, Hofmann S, Lochmuller H, Kiechl-Kohlendorfer U, Willeit J, Sperl W, Rettinger A, Bieger I, Pongratz D, Gerbitz KD, Bauer MF. Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. Journal of Inherited Metabolic Disease 2002, 25(1), 17-27.
• M. Jaksch,H. Lochmüller,F. Schmitt,B. Völpel,B. Obermaier-Kusser,R. Horváth. A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract. Neurology 2001, 57(10), 1930-1.
• J. Moll,P. Barzaghi,S. Lin,G. Bezakova,H. Lochmüller,E. Engvall,U. Müller,M. A. Ruegg. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001, 413(6853), 302-7.
• Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Muller-Hocker J, Gerbits KD, Leichti-Gallati S, Lochmuller H, Horvath R. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. Journal of Medical Genetics 2001, 38(10), 665-673.
• Horvath R, Abicht A, Shoubridge EA, Karcagi V, Razsa C, Komoly S, Lochmaller H. Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS. Journal of Neurology 2000, 247(1), 65-67.