Works by Lochmueller, H

Results: 58

P.071 The value of genetics, biopsy and EMG in diagnosing congenital myopathies.

Published in:

2025

By:

Hui, ER;
Eisenkoelbl, A;
Hill-Smith, E;
Rodrigue, M;
Aleman, A;
Lochmueller, H;
Yaworski, A;
McMillan, H

Publication type:

Abstract

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

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

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

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

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

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

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

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

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

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

The Utility of Porous Polymer Sorbents in Chemically-Active Environments.

Published in:

International Journal of Environmental Analytical Chemistry, 1980, v. 8, n. 1, p. 37, doi. 10.1080/03067318008071877

By:

Lochmüller, C. H.;
Ewaltz, Martha Watson;
Jensen, Eric C.

Publication type:

Article

Integrating Sampling Methods for Trace Metal Analysis of Natural Water Systems: Ion Exchange Membrane Targets for Proton-Excited X-Ray Fluorescence Analysis.

Published in:

Analytical Letters, 1972, v. 5, n. 12, p. 943, doi. 10.1080/00032717208062159

By:

Lochmüller, Charles H.;
Galbraith, J.;
Walter, R.;
Joyce, J.

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

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

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

In response to Gulcin Akinci's and Haluk Topaloglu's letter regarding our article "Predictors of loss of ambulation in Duchenne muscular dystrophy: A systematic review and meta-analysis".

Published in:

2025

By:

Landfeldt, E;
Alemán, A;
Abner, S;
Zhang, R;
Werner, C;
Tomazos, I;
Ferizovic, N;
Lochmüller, H;
Kirschner, J

Publication type:

Letter

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

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

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

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

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

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

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

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

Sample and Sorbent Integrity During Combustion Source Sampling.

Published in:

Analytical Letters, 1986, v. 19, n. 1/2, p. 47, doi. 10.1080/00032718608066240

By:

Lochmüller, Charles H.;
Saavedra, Steven S.

Publication type:

Article

Applications of Optimization Strategies in the Design of Intelligent Laboratory Robotic Procedures.

Published in:

Analytical Letters, 1985, v. 18, n. 4, p. 439, doi. 10.1080/00032718508066145

By:

Lochmüller, C. H.;
Lung, K. R.;
Cousins, K. R.

Publication type:

Article

Use of Carbon Black as a Reference Material in Photoacoustic Spectroscopy.

Published in:

Analytical Letters, 1981, v. 14, n. 1, p. 41, doi. 10.1080/00032718108055465

By:

Lochmüller, C. H.;
Röhl, Raimund;
Marshall, David B.

Publication type:

Article

Letter from the Editor.

Published in:

Critical Reviews in Analytical Chemistry, 2012, v. 42, n. 3, p. 197, doi. 10.1080/10408347.2012.692951

By:

Lochmüller, C. H.

Publication type:

Article

Letter from the Editor.

Published in:

Critical Reviews in Analytical Chemistry, 2007, v. 37, n. 1, p. 1, doi. 10.1080/10408340601107649

By:

Lochmüller, C. H.

Publication type:

Article

LETTER FROM THE EDITOR.

Published in:

2004

By:

Lochmüller, C. H.

Publication type:

Letter

LETTER FROM THE EDITOR.

Published in:

Critical Reviews in Analytical Chemistry, 2004, v. 34, n. 2, p. 1, doi. 10.1080/713988313

By:

Lochmüller, C. H.

Publication type:

Article

COST-EFFECTIVE ENVIRONMENTAL ASSESSMENT AND THE ROLE OF RESEARCH TO DEVELOP NEW TOOLS FOR MEASUREMENT.

Published in:

Critical Reviews in Analytical Chemistry, 1998, v. 28, n. 2, p. 35, doi. 10.1080/10408349891194252

By:

LOCHMÜLLER, C. H.;
KOEL, MIHKEL

Publication type:

Article

Introduction to Factor Analysis.

Published in:

Critical Reviews in Analytical Chemistry, 1998, v. 28, n. 1, p. 21, doi. 10.1080/10408349891194162

By:

Lochmüller, C. H.;
Reese, Charles E.

Publication type:

Article

Letter from the Editor.

Published in:

1997

By:

Lochmüller, C. H.

Publication type:

Editorial