Search Results - "von der Hagen, M"

Handgrip and finger flexion strength in children: A cross-sectional assessment of age-related normative data and application as a clinical functional marker in paediatric neuromuscular disorders by Weber, C., Schallner, J., Von Der Hagen, M.

“…The aim of this study was to evaluate handgrip and finger flexion strength (HGFS) as functional marker for disease progression in children with neuromuscular…”
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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients by Rudnik-Schöneborn, S., Tölle, D., Senderek, J., Eggermann, K., Elbracht, M., Kornak, U., von der Hagen, M., Kirschner, J., Leube, B., Müller-Felber, W., Schara, U., von Au, K., Wieczorek, D., Bußmann, C., Zerres, K.

“…We present clinical features and genetic results of 1206 index patients and 124 affected relatives who were referred for genetic testing of Charcot–Marie–Tooth…”
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Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome by Di Donato, N., Riess, A., Hackmann, K., Rump, A., Huebner, A., von der Hagen, M., Hahn, G., Schrock, E., Tinschert, S.

“…MOMO syndrome, previously defined as Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities (OMIM 157980) is a rare intellectual disability syndrome of…”
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Acute and long-term proteome changes induced by oxidative stress in the developing brain by Kaindl, A M, Sifringer, M, Zabel, C, Nebrich, G, Wacker, M A, Felderhoff-Mueser, U, Endesfelder, S, von der Hagen, M, Stefovska, V, Klose, J, Ikonomidou, C

“…The developing mammalian brain experiences a period of rapid growth during which various otherwise innocuous environmental factors cause widespread apoptotic…”
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Acquired sensorimotor polyneuropathy in an adolescent boy with primary intracranial sarcoma by Storch, K., Schriever, V., Hahn, G., Sell, K., Smitka, M., Suttorp, M., von der Hagen, M., Schallner, J.

“…Acquired polyneuropathies (PN) are rare in childhood and adolescent. We report on a 15-year-old male patient who presented with progressive gait instability,…”
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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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Molecular characterisation of congenital myasthenic syndromes in Southern Brazil by Mihaylova, V, Scola, R H, Gervini, B, Lorenzoni, P J, Kay, C K, Werneck, L C, Stucka, R, Guergueltcheva, V, von der Hagen, M, Huebner, A, Abicht, A, Müller, J S, Lochmüller, H

“…ObjectiveTo perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana.Patients and…”
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Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine by Kinder, S, Ossig, C, Wienecke, M, Beyer, A, von der Hagen, M, Storch, A, Smitka, M

“…Abstract Episodic ataxia type 2 (EA2, MIM#108500) is the most common form of EA and an autosomal-dominant inherited disorder characterized by paroxysmal…”
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DreKiP - an outpatient treatment program for children and adolescents with headache by Richter, M, Gruhl, E, Lautenschläger, E, Müller, T, Schumann, F, Skiera, D, Theisinger, A, Zimmer, U, Berner, R, von der Hagen, M, Sabatowski, R, Hähner, A, Gossrau, G

“…Headaches are a frequent health problem among children and adolescents. The ocurrence of headaches and the resulting impairments in the quality of life and…”
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Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H by Borg, Kristian, Stucka, Rolf, Locke, Matthew, Melin, Eva, Åhlberg, Gabrielle, Klutzny, Ursula, Hagen, Maja von der, Huebner, Angela, Lochmüller, Hanns, Wrogemann, Klaus, Thornell, Lars-Eric, Blake, Derek J, Schoser, Benedikt

“…In 2005 the commonality of sarcotubular myopathy (STM) and limb girdle muscular dystrophy type 2H (LGMD2H) was demonstrated, as both are caused by the p D487N…”
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Psycho-organic symptoms as early manifestation of adult onset POMT1 -related limb girdle muscular dystrophy by Haberlova, J, Mitrović, Z, Žarković, K, Lovrić, D, Barić, V, Berlengi, L, Bilić, K, Fumić, K, Kranz, K, Huebner, A, von der Hagen, M, Barresi, R, Bushby, K, Straub, V, Barić, I, Lochmüller, H

“…Abstract We report two siblings of Croatian consanguineous healthy parents with a novel homozygous missense mutation in the POMT1 gene, presenting with…”
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Frequency of GCH1 deletions in Dopa-responsive dystonia by Zirn, B, Steinberger, D, Troidl, C, Brockmann, K, von der Hagen, M, Feiner, C, Henke, L, Müller, U

“…We performed a systematic study on the frequency of point mutations and deletions of the gene GCH1 in dopa-responsive dystonia (DRD). A total of 136 dystonia…”
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P5.46 LPIN1 gene mutations can cause familial rhabdomyolysis and unexpected death in infancy by von der Hagen, M, Smitka, M, Michot, C, Hubert, L, de Kevzer, Y, Huebner, A, de Lonlay, P

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Novel RYR1 missense mutation causes core rod myopathy by Von Der Hagen, M., Kress, W., Hahn, G., Brocke, K. S., Mitzscherling, P., Huebner, A., Müller-Reible, C., Stoltenburg-Didinger, G., Kaindl, A. M.

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G.P.14.12 Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) – Exclusion of all known LGMD loci with microsatellite analysis by von der Hagen, M, Walter, M.C, Lochmueller, H, Bushby, K.M.D, Vorgerd, M, Huebner, A

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Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis by von der Hagen, M., Schallner, J., Kaindl, A.M., Koehler, K., Mitzscherling, P., Abicht, A., Grieben, U., Korinthenberg, R., Kress, W., von Moers, A., Müller, J.S., Schara, U., Vorgerd, M., Walter, M.C., Müller-Reible, C., Hübner, C., Lochmüller, H., Huebner, A.

“…The identification of an ever increasing number of gene defects in patients with neuromuscular disorders has disclosed both marked phenotype and genotype…”
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The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin by Friebel, D, von der Hagen, M, Baumgartner, E R, Fowler, B, Hahn, G, Feyh, P, Heubner, G, Baumgartner, M R, Hoffmann, G F

“…3-Methylcrotonylglycinuria is an inborn error of leucine catabolism with an autosomal recessive pattern of inheritance that results from a deficiency of…”
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C.P.2.08 Phenotype and long-term follow-up in juvenile patients with selenoprotein N-related myopathy (SEPN1-RM) by von der Hagen, M, Kress, W, Bönnemann, C, Breitbach-Faller, N, Korenke, C, Schreiber, G, Stoetter, M, Wilichowski, E, Ferreiro, A, Schara, U

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P.113Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness by Villar-Quiles, R., von der Hagen, M., Quijano-Roy, S., Gonzalez, V., Donkervoort, S., de Visser, M., Fidzianska, A., Orlikowski, D., Goemans, N., Mayer, M., Merlini, L., Romero, N., Fardeau, M., Topaloğlu, H., Métay, C., Richard, P., Estournet, B., Bönnemann, C., Schara, U., Ferreiro, A.

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Childhood primary large vessel CNS vasculitis: single-centre experience and review of the literature by Walsh, Sonja, Knöfler, Ralf, Hahn, Gabriele, Lohse, Judith, Berner, Reinhard, Brenner, Sebastian, Smitka, Martin, von der Hagen, Maja, Hedrich, Christian M

“…Ischaemic brain injuries are rare conditions in the paediatric age group. Main causes include non-arteriosclerotic arteriopathies, which in childhood usually…”
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