Search Results - "LOCHMÜLLER, H"

Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies by McMacken, G., Whittaker, R. G., Charlton, R., Barresi, R., Lochmüller, H., Horvath, R.

“…Upper limb onset inherited neuropathies are genetically heterogeneous and in some cases there is an overlapping myopathy. Autosomal dominant GARS mutations are…”
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Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number by WIRTH, B, BRICHTA, L, SCHRANK, B, LOCHMÜLLER, H, BLICK, S, BAASNER, A, HELLER, R

“…Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by loss of the SMN1 gene. The clinical distinction between SMA type I to IV reflects…”
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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK by Figueroa-Bonaparte, S, Hudson, J, Barresi, R, Polvikoski, T, Williams, T, Töpf, A, Harris, E, Hilton-Jones, D, Petty, R, Willis, T A, Longman, C, Dougan, C F, Parton, M J, Hanna, M G, Quinlivan, R, Farrugia, M E, Guglieri, M, Bushby, K, Straub, V, Lochmüller, H, Evangelista, T

“…Introduction Hereditary inclusion body myopathy (IBM) with Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) (IBMPFD) is a rare autosomal…”
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Quality of life of patients with spinal muscular atrophy: A systematic review by Landfeldt, Erik, Edström, Josefin, Sejersen, Thomas, Tulinius, Már, Lochmüller, Hanns, Kirschner, Janbernd

“…To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular…”
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Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada by McMillan, H J, Gerber, B, Cowling, T, Khuu, W, Mayer, M, Wu, J W, Maturi, B, Klein-Panneton, K, Cabalteja, C, Lochmüller, H

“…Spinal muscular atrophy (SMA) is a rare neurodegenerative disease characterized by progressive muscular weakness, which occurs in one in 6,000 to 10,000 live…”
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EFNS guideline on diagnosis and management of limb girdle muscular dystrophies by Norwood, F., De Visser, M., Eymard, B., Lochmüller, H., Bushby, K.

“…The limb girdle muscular dystrophies (LGMD) are termed as such as they share the characteristic feature of muscle weakness predominantly affecting the shoulder…”
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Beevor's sign: a potential clinical marker for GNE myopathy by Preethish-Kumar, V., Pogoryelova, O., Polavarapu, K., Gayathri, N., Seena, V., Hudson, J., Nishino, I., Prasad, C., Lochmüller, H., Nalini, A.

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Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD) by Nadarajah, V.D, van Putten, M, Chaouch, A, Garrood, P, Straub, V, Lochmüller, H, Ginjaar, H.B, Aartsma-Rus, A.M, van Ommen, G.J.B, den Dunnen, J.T, t Hoen, P.A.C

“…Abstract To identify serum biomarkers that allow monitoring of disease progression and treatment effects in Duchenne muscular dystrophy (DMD) patients, levels…”
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Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion by Willis, T.A., Wood, C.L., Hudson, J., Polvikoski, T., Barresi, R., Lochmüller, H., Bushby, K., Straub, V.

“…Four and a half LIM protein 1 (FHL1/SLIM1) has recently been identified as the causative gene mutated in four distinct diseases affecting skeletal muscle that…”
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Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne by Lourbakos, A., Yau, N., de Bruijn, P., Hiller, M., Kozaczynska, K., Jean-Baptiste, R., Reza, M., Wolterbeek, R., Koeks, Z., Ayoglu, B., de Klerk, D., Campion, G., Zaharieva, I., Nadarajah, V. D., Nilsson, P., Al-Khalili Szigyarto, C., Muntoni, F., Lochmüller, H., Verschuuren, J. J., Goemans, N., Tulinius, M., Niks, E. H., de Kimpe, S., Aartsma-Rus, A., ’t Hoen, Peter A. C., Spitali, P.

“…Duchenne Muscular Dystrophy (DMD) is a severe muscle disorder caused by lack of dystrophin. Predictive biomarkers able to anticipate response to the…”
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Coenzyme Q10 deficiency and isolated myopathy by HORVATH, R, SCHNEIDERAT, P, LOCHMÜLLER, H, SCHOSER, B. G. H, GEMPEL, K, NEUEN-JACOB, E, PLÖGER, H, MÜLLER-HÖCKER, J, PONGRATZ, D. E, NAINI, A, DIMAURO, S

“…Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and…”
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Characterisation of MYO9A as a pre-synaptic CMS gene by O’Connor, E, Cordts, I, Roos, A, Lochmüller, H

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Genotype-phenotype correlation analysis in GNE myopathy by Pogoryelova, O, Cammish, P, Mansbach, H, Lochmüller, H

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O10 Protein aggregate myopathies and ageing by Lochmüller, H

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Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis by Landfeldt, E, Alemán, A, Abner, S, Zhang, R, Werner, C, Tomazos, I, Ferizovic, N, Lochmüller, H, Kirschner, J

“…The objective of this study was to describe predictors of loss of ambulation in Duchenne muscular dystrophy (DMD). This systematic review and meta-analysis…”
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Molecular characterization of congenital myasthenic syndromes in Spain by Natera-de Benito, D., Töpf, A., Vilchez, J.J., González-Quereda, L., Domínguez-Carral, J., Díaz-Manera, J., Ortez, C., Bestué, M., Gallano, P., Dusl, M., Abicht, A., Müller, J.S., Senderek, J., García-Ribes, A., Muelas, N., Evangelista, T., Azuma, Y., McMacken, G., Paipa Merchan, A., Rodríguez Cruz, P.M., Camacho, A., Jiménez, E., Miranda-Herrero, M.C., Santana-Artiles, A., García-Campos, O., Dominguez-Rubio, R., Olivé, M., Colomer, J., Beeson, D., Lochmüller, H., Nascimento, A.

“…•Molecular genetic and clinical findings of 64 genetically confirmed CMS patients.•Overview on relative frequencies of different subtypes in Spanish…”
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Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey by Jiménez-Moreno, A.C., Raaphorst, J., Babačić, H., Wood, L., van Engelen, B., Lochmüller, H., Schoser, B., Wenninger, S.

“…•This is the first high scale survey for falls and fractures for Myotonic Dystrophy 1.•DM1 adults showed 2.3 more risk of falling than a healthy adult over 65…”
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Oculopharyngodistal myopathy is a distinct entity: Clinical and genetic features of 47 patients by DURMUS, H, LAVAL, S. H, STRAUB, V, BUSHBY, K, LOCHMÜLLER, H, SERDAROGLU-OFLAZER, P, DEYMEER, F, PARMAN, Y, KIYAN, E, GOKYIGITI, M, ERTEKIN, C, ERCAN, I, SOLAKOGLU, S, KARCAGI, V

“…Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive…”
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Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading by Landfeldt, E, Aleman, A, Abner, S, Zhang, R, Werner, C, Tomazos, I, Lochmüller, H, Quinlivan, R M

“…Despite advances in the medical management of the disease, respiratory involvement remains a significant source of morbidity and mortality in children and…”
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REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK-RELATED CONGENITAL MYASTHENIC SYNDROMES by MIHAYLOVA, V, SALIH, M. A. M, LOCHMÜLLER, H, GUERGUELTCHEVA, V, MUKHTAR, M. M, ABUZEID, H. A, EL-SADIG, S. M, VON DER HAGEN, M, HUEBNER, A, NÜRNBERG, G, ABICHT, A, MÜLLER, J. S

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