Search Results - "Reilich, P."

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P by Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schröder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U., Bulst, S., Frey, J. R., Lochmüller, H.

“…In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large,…”
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Alterations in the trapezius muscle in young patients with migraine – A pilot case series with MRI by Landgraf, M.N, Ertl-Wagner, B, Koerte, I.K, Thienel, J, Langhagen, T, Straube, A, von Kries, R, Reilich, P, Pomschar, A, Heinen, F

“…Abstract Background/purpose Migraine is frequent in young adults and adolescents and often associated with neck muscle tension and pain. Common…”
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P541: The impact of spinal muscular atrophies with regard to patients’ quality of life: a socio-economic analysis of a German patient cohort by Schreiber, O, Klug, C, Thiele, S, Herrmann, C, Zowe, J, Reilich, P, Nagels, K, Walter, M.C

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G.P.166 by Schreiber, O, Klug, C, Thiele, S, Schorling, E, Zowe, J, Reilich, P, Nagels, K, Walter, M.C

“…DMD is a fatal incurable progressive disorder resulting in disability, reduced working capacity and high health care utilization often along with intense care…”
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Evaluation of Cost Of Illness (COI) and health care burden in Spinal Muscular Atrophies (SMA) by Klug, C, Thiele, S, Herrmann, C, Zowe, J, Reilich, P, Nagels, K, Walter, M.C

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High-dose immunoglobulin therapy in sporadic inclusion body myositis : a double-blind, placebo-controlled study by WALTER, M. C, LOCHMÜLLER, H, TOEPFER, M, SCHLOTTER, B, REILICH, P, SCHRÖDER, M, MÜLLER-FELBER, W, PONGRATZ, D

“…Sporadic inclusion body myositis (s-IBM) is an acquired inflammatory muscle disease of unknown cause. In general, s-IBM presents with slowly progressive,…”
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Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degeneration by Schessl, J., Schuberth, M., Reilich, P., Schneiderat, P., Strigl-Pill, N., Walter, M. C., Schlotter-Weigel, B., Schoser, B.

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Seronegative myasthenic syndrome? by Selge, C, Kümpfel, T, Havla, J, Schöberl, F, Danek, A, Reilich, P

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Creatine monohydrate in muscular dystrophies : A double-blind, placebo-controlled clinical study by WALTER, M. C, LOCHMÜLLER, H, REILICH, P, KLOPSTOCK, T, HUBER, R, HARTARD, M, HENNIG, M, PONGRATZ, D, MÜLLER-FELBER, W

“…The authors assessed the safety and efficacy of creatine monohydrate (Cr) in various types of muscular dystrophies in a double-blind, crossover trial…”
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Ten-year follow-up in a case series of integrative botulinum toxin intervention in adolescents with chronic daily headache and associated muscle pain by Schroeder, A S, Huss, K, Blaschek, A, Koerte, I K, Zeycan, B, Roser, T, Langhagen, T, Schwerin, A, Berweck, S, Reilich, P, Schaefer, J, Straube, A, Heinen, F

“…A total of 83% of children report headache during a 6-month period. The estimated 1-year prevalence of chronic daily headache (CDH) in children is at least 1…”
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P75 Muscle MRI findings in LGMD2L by Sarkozy, A, Hicks, P, Miller, J, Walter, M.C, Reilich, P, Radunovic, A, Vaidya, S.S, Lochmüller, H, Bushby, K, Straub, V

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P4.27 Muscle MRI findings in anoctaminopathy by Sarkozy, A, Hicks, D, Miller, J, Walter, M.C, Reilich, P, Lochmuller, H, Bushby, K, Straub, V

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P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment by Horvath, R, Reilich, P, Krause, S, Turnbull, D.M, Trenell, M, Hollingsworth, K.G, Gorman, G.S, Czermin, B, Holinski-Feder, E, Walter, M.C, Schoser, B, Lochmüller, H

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Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein by Krause, S, Göhringer, T, Walter, M C, Schoser, B G H, Reilich, P, Linn, J, Pöpperl, G E, Frölich, L, Hentschel, F, Lochmüller, H, Danek, A

“…Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD, MIM 167320) is a recently identified autosomal dominant disorder due to…”
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FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients by Walter, M C, Petersen, J A, Stucka, R, Fischer, D, Schröder, R, Vorgerd, M, Schroers, A, Schreiber, H, Hanemann, C O, Knirsch, U, Rosenbohm, A, Huebner, A, Barisic, N, Horvath, R, Komoly, S, Reilich, P, Müller-Felber, W, Pongratz, D, Müller, J S, Auerswald, E A, Lochmüller, H

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De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy by Durling, H.J, Reilich, P, Müller-Höcker, J, Mendel, B, Pongratz, D, Wallgren-Pettersson, C, Gunning, P, Lochmüller, H, Laing, N.G

“…We describe an atypical case of nemaline myopathy with an unusual distribution of muscle weakness who presented at 14 years of age with kyphoscoliosis . In…”
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Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin gene by Walter, M., Reilich, P., Krause, S., Abicht, A., Schoser, B.

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P.47 - Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin gene by Walter, M., Reilich, P., Krause, S., Abicht, A., Schoser, B.

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LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments by Reilich, P, Petersen, J A, Vielhaber, S, Mawrin, C, Schneider-Gold, C, Sommer, C, Reiners, K, Deschauer, M, Pongratz, D, Lochmüller, H, Walter, M C

“…We report on two unrelated patients clinically presenting with late-onset progressive limb girdle weakness; cardiomyopathy was seen in one patient. Muscle…”
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Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood by Walter, M C, Dekomien, G, Schlotter-Weigel, B, Reilich, P, Pongratz, D, Müller-Felber, W, Epplen, J T, Huebner, A, Lochmüller, H

“…Several forms of recessive limb girdle muscular dystrophy (LGMD2C-F) are due to mutations in genes coding for sarcoglycans. Clinically, most…”
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