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Screening for Carnitine Palmitoyltransferase II Deficiency by Tandem Mass Spectrometry.
Published in:
Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 17, doi. 10.1023/A:1015109127986
By:
- Gempel, K.;
- Kiechl, S.;
- Hofmann, S.;
- Lochmüller, H.;
- Kiechl-Kohlendorfer, U.;
- Willeit, J.;
- Sperl, W.;
- Rettinger, A.;
- Bieger, I.;
- Pongratz, D.;
- Gerbitz, K.;
- Bauer, M.
Publication type:
Article
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
Published in:
Clinical Genetics, 2016, v. 90, n. 2, p. 166, doi. 10.1111/cge.12695
By:
- Willis, T.A.;
- Wood, C.L.;
- Hudson, J.;
- Polvikoski, T.;
- Barresi, R.;
- Lochmüller, H.;
- Bushby, K.;
- Straub, V.
Publication type:
Article
Beevor's sign: a potential clinical marker for GNE myopathy.
Published in:
European Journal of Neurology, 2016, v. 23, n. 8, p. e46, doi. 10.1111/ene.13041
By:
- Preethish ‐ Kumar, V.;
- Pogoryelova, O.;
- Polavarapu, K.;
- Gayathri, N.;
- Seena, V.;
- Hudson, J.;
- Nishino, I.;
- Prasad, C.;
- Lochmüller, H.;
- Nalini, A.
Publication type:
Article
C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.
Published in:
2010
By:
- Spengos, K.;
- Walter, M. C.;
- Dekomien, G.;
- Papadopoulos, K.;
- Lochmüller, H.;
- Manta, P.
Publication type:
Letter
No muscle involvement in myoclonus-dystonia caused by ℇ-sarcoglycan gene mutations.
Published in:
European Journal of Neurology, 2008, v. 15, n. 5, p. 525, doi. 10.1111/j.1468-1331.2008.02116.x
By:
- Hjermind, L. E.;
- Vissing, J.;
- Asmus, F.;
- Krag, T.;
- Lochmüller, H.;
- Walter, M. C.;
- Erdal, J.;
- Blake, D. J.;
- Nielsen, J. E.
Publication type:
Article
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
Published in:
European Journal of Neurology, 2007, v. 14, n. 12, p. 1305, doi. 10.1111/j.1468-1331.2007.01979.x
By:
- Norwood, F.;
- de Visser, M.;
- Eymard, B.;
- Lochmüller, H.;
- Bushby, K.
Publication type:
Article
Mass spectra of 2,4,6-tris(dimethoxycarbonylmethylene)hexahydro- s-triazine and 2,4,6-tris(diethoxycarbonylmethylene)hexahydro- s-triazine. Evidence for fragmentation by successive intramolecular rearrangements.
Published in:
Journal of Heterocyclic Chemistry, 1975, v. 12, n. 6, p. 1279, doi. 10.1002/jhet.5570120634
By:
- Reynolds, G. Fredric;
- Lochmüller, Charles H.
Publication type:
Article
The spread of transgene expression at the site of gene construct injection.
Published in:
2001
By:
- O'Hara, Amanda J.;
- Howell, John McC;
- Taplin, Ross H.;
- Fletcher, Sue;
- Lloyd, Frances;
- Kakulas, Byron;
- Lochmüller, Hanns;
- Karpati, George;
- O'Hara, A J;
- Howell, J M;
- Taplin, R H;
- Fletcher, S;
- Lloyd, F;
- Kakulas, B;
- Lochmüller, H;
- Karpati, G
Publication type:
journal article
Leber’s hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS.
Published in:
Journal of Neurology, 2000, v. 247, n. 1, p. 65
By:
- Horváth, R.;
- Abicht, A.;
- Shoubridge, E. A.;
- Karcagi, V.;
- Rózsa, C.;
- Komoly, S.;
- Lochmüller, H.
Publication type:
Article
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.
Published in:
Human Genetics, 2006, v. 119, n. 4, p. 422, doi. 10.1007/s00439-006-0156-7
By:
- Wirth, B.;
- Brichta, L.;
- Schrank, B.;
- Lochmüller, H.;
- Blick, S.;
- Baasner, A.;
- Heller, R.
Publication type:
Article
Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood.
Published in:
2022
By:
- van Cruchten, Remco T. P.;
- van As, Daniël;
- Glennon, Jeffrey C.;
- van Engelen, Baziel G. M.;
- 't Hoen, Peter A. C.;
- the ReCognitION consortium;
- Okkersen, K;
- Jimenez-Moreno, C;
- Wenninger, S;
- Daidj, F;
- Cumming, S;
- Littleford, R;
- Monckton, D G;
- Lochmüller, H;
- Catt, M;
- Faber, C G;
- Hapca, A;
- Donnan, P T;
- Gorman, G;
- Bassez, G
Publication type:
journal article
Thermal and thermo-oxidative degradation of polystyrene in the presence of ammonium sulfate.
Published in:
Macromolecular Chemistry & Physics, 1997, v. 198, n. 10, p. 3137, doi. 10.1002/macp.1997.021981012
By:
- Zhu, Xinsheng;
- Elomaa, Matti;
- Sundholm, Franciska;
- Lochmüller, Charles H.
Publication type:
Article
The neurotrophin receptor p75NTR is induced on mature myofibres in inflammatory myopathies and promotes myotube survival to inflammatory stress.
Published in:
Neuropathology & Applied Neurobiology, 2012, v. 38, n. 4, p. 367, doi. 10.1111/j.1365-2990.2011.01212.x
By:
- Colombo, E.;
- Romaggi, S.;
- Blasevich, F.;
- Mora, M.;
- Falcone, C.;
- Lochmüller, H.;
- Morandi, L.;
- Farina, C.
Publication type:
Article
Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
Published in:
Neuropathology & Applied Neurobiology, 2007, v. 33, n. 5, p. 544, doi. 10.1111/j.1365-2990.2007.00839.x
By:
- Schoser, B. G. H.;
- Müller-Höcker, J.;
- Horvath, R.;
- Gempel, K.;
- Pongratz, D.;
- Lochmüller, H.;
- Müller-Felber, W.
Publication type:
Article
Efficient muscle-specific transgene expression after adenovirus-mediated gene transfer in mice using a 1.35 kb muscle creatine kinase promoter/enhancer.
Published in:
Gene Therapy, 1997, v. 4, n. 5, p. 465, doi. 10.1038/sj.gt.3300414
By:
- Larochelle, N;
- Lochmüller, H;
- Zhao, J;
- Jani, A;
- Hallauer, P;
- Hastings, K E M;
- Massie, B;
- Prescott, S;
- Petrof, B J;
- Karpati, G;
- Nalbantoglu, J
Publication type:
Article
Aerosol-jet produced, magnetic carrageenan-gel particles: A new affinity chromatography matrix.
Published in:
Journal of Chemical Technology & Biotechnology, 1987, v. 40, n. 1, p. 33, doi. 10.1002/jctb.280400104
By:
- Lochmüller, Charles H.;
- Wigman, Larry S.;
- Kitchell, Barbara S.
Publication type:
Article
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Published in:
2011
By:
- Hicks D;
- Sarkozy A;
- Muelas N;
- Koehler K;
- Huebner A;
- Hudson G;
- Chinnery PF;
- Barresi R;
- Eagle M;
- Polvikoski T;
- Bailey G;
- Miller J;
- Radunovic A;
- Hughes PJ;
- Roberts R;
- Krause S;
- Walter MC;
- Laval SH;
- Straub V;
- Lochmüller H
Publication type:
journal article
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 147, doi. 10.1093/brain/awn289
By:
- D. Hicks;
- A. K. Lampe;
- S. H. Laval;
- V. Allamand;
- C. Jimenez-Mallebrera;
- M. C. Walter;
- F. Muntoni;
- S. Quijano-Roy;
- P. Richard;
- V. Straub;
- H. Lochmüller;
- K. M. D. Bushby
Publication type:
Article
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).
Published in:
2008
By:
- Thornhill P;
- Bassett D;
- Lochmüller H;
- Bushby K;
- Straub V;
- Thornhill, Paul;
- Bassett, David;
- Lochmüller, Hanns;
- Bushby, Kate;
- Straub, Volker
Publication type:
journal article
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1485, doi. 10.1093/brain/awm039
By:
- M. C. Walter;
- P. Reilich;
- A. Huebner;
- D. Fischer;
- R. Schröder;
- M. Vorgerd;
- W. Kress;
- C. Born;
- B. G. Schoser;
- K. H. Krause;
- U. Klutzny;
- S. Bulst;
- J. R. Frey;
- H. Lochmüller
Publication type:
Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Published in:
2006
By:
- Horvath R;
- Hudson G;
- Ferrari G;
- Fütterer N;
- Ahola S;
- Lamantea E;
- Prokisch H;
- Lochmüller 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
Publication type:
journal article
Homozygosity for CCTG mutation in myotonic dystrophy type 2.
Published in:
2004
By:
- Schoser BGH;
- Kress W;
- Walter MC;
- Halliger-Keller B;
- Lochmüller H;
- Ricker K
Publication type:
Journal Article
Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy.
Published in:
2010
By:
- Bauer R;
- Blain A;
- Greally E;
- Bushby K;
- Lochmüller H;
- Laval S;
- Straub V;
- Macgowan GA;
- Bauer, Ralf;
- Blain, Alison;
- Greally, Elizabeth;
- Bushby, Kate;
- Lochmüller, Hanns;
- Laval, Steve;
- Straub, Volker;
- MacGowan, Guy A
Publication type:
journal article
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 579, doi. 10.3233/JND-230220
By:
- Landfeldt, E.;
- Alemán, A.;
- Abner, S.;
- Zhang, R.;
- Werner, C.;
- Tomazos, I.;
- Ferizovic, N.;
- Lochmüller, H.;
- Kirschner, J.
Publication type:
Article
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 25, doi. 10.3233/JND-230094
By:
- Landfeldt, E.;
- Aleman, A.;
- Abner, S.;
- Zhang, R.;
- Werner, C.;
- Tomazos, I.;
- Lochmüller, H.;
- Quinlivan, R.M.
Publication type:
Article
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 553, doi. 10.3233/JND-200610
By:
- McMillan, H. J.;
- Gerber, B.;
- Cowling, T.;
- Khuub, W.;
- Mayer, M.;
- Wu, J. W.;
- Maturi, B.;
- Klein-Panneton, K.;
- Cabalteja, C.;
- Lochmüller, H.
Publication type:
Article
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 3, p. 401, doi. 10.3233/JND-200621
By:
- Manta, A.;
- Speniff, S.;
- Lochmüller, H.;
- Thompson, R.
Publication type:
Article
Treatment of glycogenosis type V with ketogenic diet.
Published in:
2005
By:
- Busch V;
- Gempel K;
- Hack A;
- Müller K;
- Vorgerd M;
- Lochmüller H;
- Baumeister FAM
Publication type:
Journal Article
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.
Published in:
2005
By:
- Schoser BGH;
- Frosk P;
- Engel AG;
- Klutzny U;
- Lochmüller H;
- Wrogemann K
Publication type:
Journal Article
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Published in:
2005
By:
- Auer-Grumbach M;
- Schlotter-Weigel B;
- Lochmüller H;
- Strobl-Wildemann G;
- Auer-Grumbach P;
- Fischer R;
- Offenbacher H;
- Zwick EB;
- Robl T;
- Hartl G;
- Hartung H;
- Wagner K;
- Windpassinger C;
- Austrian Peripheral Neuropathy Study Group
Publication type:
Journal Article
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Published in:
2003
By:
- Grohmann K;
- Varon R;
- Stolz P;
- Schuelke M;
- Janetzki C;
- Bertini E;
- Bushby K;
- Muntoni F;
- Ouvrier R;
- Van Maldergem L;
- Goemans NML;
- Lochmüller H;
- Eichholz S;
- Adams C;
- Bosch F;
- Grattan-Smith P;
- Navarro C;
- Neitzel H;
- Polster T;
- Topaloglu H
Publication type:
Journal Article
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
Published in:
Journal of Neurology, 2016, v. 263, n. 3, p. 517, doi. 10.1007/s00415-015-8015-x
By:
- Natera-de Benito, D.;
- Nascimento, A.;
- Abicht, A.;
- Ortez, C.;
- Jou, C.;
- Müller, J.;
- Evangelista, T.;
- Töpf, A.;
- Thompson, R.;
- Jimenez-Mallebrera, C.;
- Colomer, J.;
- Lochmüller, H.
Publication type:
Article
Noninvasive [sup 13] C-Octanoic Acid Breath Test Shows Delayed Gastric Emptying in Patients with Amyotrophic Lateral Sclerosis.
Published in:
Digestion, 1999, v. 60, n. 6, p. 567, doi. 10.1159/000007708
By:
- Toepfer, Marcel;
- Folwaczny, C.;
- Lochmüller, H.;
- Schroeder, M.;
- Riepl, R. L.;
- Pongratz, D.;
- Müller-Felber, W.
Publication type:
Article
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.
Published in:
European Journal of Neurology, 2021, v. 28, n. 1, p. 297, doi. 10.1111/ene.14514
By:
- McMacken, G.;
- Whittaker, R. G.;
- Charlton, R.;
- Barresi, R.;
- Lochmüller, H.;
- Horvath, R.
Publication type:
Article
Survival patterns and cancer determinants in families with myotonic dystrophy type 1.
Published in:
European Journal of Neurology, 2019, v. 26, n. 1, p. 58, doi. 10.1111/ene.13763
By:
- Best, A. F.;
- Hilbert, J. E.;
- Wood, L.;
- Martens, W. B.;
- Nikolenko, N.;
- Marini‐Bettolo, C.;
- Lochmüller, H.;
- Rosenberg, P. S.;
- Moxley, R. T.;
- Greene, M. H.;
- Gadalla, S. M.
Publication type:
Article
U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping.
Published in:
Cellular & Molecular Life Sciences, 2003, v. 60, n. 3, p. 557, doi. 10.1007/s000180300047
By:
- Brun, C.;
- Suter, D.;
- Pauli, C.;
- Dunant, P.;
- Lochmüller, H.;
- Burgunder, J.-M.;
- Schümperli, D.;
- Weis, J.
Publication type:
Article
Carbon-13 and proton magnetic resonance studies of some carbonyl-bis-(amino acid esters).
Published in:
Magnetic Resonance in Chemistry, 1973, v. 5, n. 8, p. 353, doi. 10.1002/mrc.1270050802
By:
- Lochmüller, C. H.;
- Souter, R. W.
Publication type:
Article
EFNS nuorodos apie galūnių-juosmens raumenų distrofijų diagnostiką ir gydymą.
Published in:
Neurologijos Seminarai, 2008, v. 12, n. 3, p. 170
By:
- Norwood, F.;
- de Visser, M.;
- Eymard, B.;
- Lochmüller, H.;
- Bushby, K.
Publication type:
Article
P.084 The Canadian Neuromuscular Disease Registry: a national spinal muscular atrophy registry for real world evidence.
Published in:
2023
By:
- Westbury, G;
- Hodgkinson, V;
- Brais, B;
- Campbell, C;
- Gonorazky, H;
- Lochmüller, H;
- MacKenzie, A;
- McMillan, H;
- Oskoui, M;
- Korngut, L;
- Selby, K
Publication type:
Abstract

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