Search Results - "Schimke, N"

Voxel-based morphometry and voxel-based relaxometry in multiple system atrophy—A comparison between clinical subtypes and correlations with clinical parameters by Minnerop, M., Specht, K., Ruhlmann, J., Schimke, N., Abele, M., Weyer, A., Wüllner, U., Klockgether, T.

“…Multiple system atrophy (MSA) is a neurodegenerative disease affecting basal ganglia, brainstem, cerebellum, and intermediolateral cell columns of the spinal…”
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High dose vitamin E therapy in amyotrophic lateral sclerosis as add-on therapy to riluzole: results of a placebo-controlled double-blind study by Graf, M, Ecker, D, Horowski, R, Kramer, B, Riederer, P, Gerlach, M, Hager, C, Ludolph, A C, Becker, G, Osterhage, J, Jost, W H, Schrank, B, Stein, C, Kostopulos, P, Lubik, S, Wekwerth, K, Dengler, R, Troeger, M, Wuerz, A, Hoge, A, Schrader, C, Schimke, N, Krampfl, K, Petri, S, Zierz, S, Eger, K, Neudecker, S, Traufeller, K, Sievert, M, Neundörfer, B, Hecht, M

“…Increasing evidence has suggested that oxidative stress may be involved in the pathogenesis of amyotrophic lateral sclerosis (ALS). The antioxidant vitamin E…”
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The European Multiple System Atrophy-Study Group (EMSA-SG) by Geser, F, Seppi, K, Stampfer-Kountchev, M, Köllensperger, M, Diem, A, Ndayisaba, J P, Ostergaard, K, Dupont, E, Cardozo, A, Tolosa, E, Abele, M, Dodel, R, Klockgether, T, Ghorayeb, I, Yekhlef, F, Tison, F, Daniels, C, Kopper, F, Deuschl, G, Coelho, M, Ferreira, J, Rosa, M M, Sampaio, C, Bozi, M, Schrag, A, Hooker, J, Kim, H, Scaravilli, T, Mathias, C J, Fowler, C, Wood, N, Quinn, N, Widner, H, Nilsson, C F, Lindvall, O, Schimke, N, Eggert, K M, Oertel, W, del Sorbo, F, Carella, F, Albanese, A, Pellecchia, M T, Barone, P, Djaldetti, R, Meco, G, Colosimo, C, Gonzalez-Mandly, A, Berciano, J, Gurevich, T, Giladi, N, Galitzky, M, Ory, F, Rascol, O, Kamm, C, Buerk, K, Maass, S, Gasser, T, Poewe, W, Wenning, G K

“…Introduction. The European Multiple System Atrophy-Study Group (EMSA-SG) is an academic network comprising 23 centers across Europe and Israel that has…”
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Computerized movement analysis and beta-CIT-SPECT in patients with restless legs syndrome by Mrowka, M, Jöbges, M, Berding, G, Schimke, N, Shing, M, Odin, P

“…Considering the positive effect of dopaminergic treatment on Restless Legs Syndrome (RLS), it has been suggested that the cause of RLS may be linked to central…”
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Three-dimensional computerized analysis of diadochokinetic movements of Parkinsonian patients by Joebges, M., Mrowka, M., Schimke, N., Shing, M., Dengler, R., Odin, P.

“…Objectives – Considering the rapid appearance of new pharmaceutical and surgical treatments for Parkinson's disease, a development of quantitative and…”
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Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy : evidence for failure of dystrophin production in dystrophin-competent myonuclei by PEGORARO, E, SCHIMKE, R. N, MARKS, H, APPLETON, S, TORIELLO, H, WESSEL, H. B, DONNELLY, J, BERNES, S. M, TABER, J. W, WEISS, L, HOFFMAN, E. P, GARCIA, C, STERN, H, CADALDINI, M, ANGELINI, C, BARBOSA, E, CARROLL, J, MARKS, W. A, NEVILLE, H. E

“…We studied 19 symptomatic female carriers of the Duchenne muscular dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or…”
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Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females by PEGORARO, E, SCHIMKE, R. N, BAUSERMAN, S. C, MARKS, W. A, TORIELLO, H. V, HIGGINS, J. V, APPLETON, S, SCHWARTZ, L, GARCIA, C. A, HOFFMAN, E. P, ARAHATA, K, HAYASHI, Y, STERN, H, MARKS, H, GLASBERG, M. R, CARROLL, J. E, TABER, J. W, WESSEL, H. B

“…Duchenne muscular dystrophy is one of the most common lethal monogenic disorders and is caused by dystrophin deficiency. The disease is transmitted as an…”
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Genetic Aspects of Multiple Endocrine Neoplasia by Schimke, R N

“…There are three well-delineated multiple endocrine neoplasia syndromes, all of which are inherited as autosomal dominant traits. Available evidence suggests…”
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Progression of multiple system atrophy (MSA): A prospective natural history study by the European MSA Study Group (EMSA SG) by Geser, Felix, Wenning, Gregor K., Seppi, Klaus, Stampfer-Kountchev, Michaela, Scherfler, Christoph, Sawires, Martin, Frick, Carolin, Ndayisaba, Jean-Pierre, Ulmer, Hanno, Pellecchia, Maria T., Barone, Paolo, Kim, Hee T., Hooker, Juzar, Quinn, Niall P., Cardozo, Adriana, Tolosa, Eduardo, Abele, Michael, Klockgether, Thomas, Østergaard, Karen, Dupont, Erik, Schimke, Nicole, Eggert, Karla M., Oertel, Wolfgang, Djaldetti, Ruth, Poewe, Werner

“…The disease‐specific Unified Multiple System Atrophy Rating Scale (UMSARS) has been developed recently and validated for assessing disease severity in multiple…”
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Health-related quality of life in multiple system atrophy by Schrag, Anette, Geser, Felix, Stampfer-Kountchev, Michaela, Seppi, Klaus, Sawires, Martin, Köllensperger, Martin, Scherfler, Christoph, Quinn, Niall, Pellecchia, Maria T., Barone, Paolo, del Sorbo, Francesca, Albanese, Alberto, Ostergaard, Karen, Dupont, Erik, Cardozo, Adriana, Tolosa, Eduardo, Nilsson, Christer F., Widner, Håkan, Lindvall, Olle, Giladi, Nir, Gurevich, Tanya, Daniels, Christine, Deuschl, Günther, Coelho, Miguel, Sampaio, Cristina, Abele, Michael, Klockgether, Thomas, Schimke, Nicole, Eggert, Karla M., Oertel, Wolfgang, Djaldetti, Ruth, Colosimo, Carlo, Meco, Giuseppe, Poewe, Werner, Wenning, Gregor K.

“…Although multiple system atrophy (MSA) is a neurodegenerative disorder leading to progressive disability and decreased life expectancy, little is known about…”
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Callosal tissue loss in multiple system atrophy-A one-year follow-up study by Minnerop, Martina, Lüders, Eileen, Specht, Karsten, Ruhlmann, Jürgen, Schimke, Nicole, Thompson, Paul M., Chou, Yi Y., Toga, Arthur W., Abele, Michael, Wüllner, Ullrich, Klockgether, Thomas

“…Multiple system atrophy (MSA) is a neurodegenerative disease not only affecting the basal ganglia, brainstem, cerebellum, and intermediolateral cell columns of…”
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CT screening of the abdomen in von Hippel-Lindau disease by Levine, E, Collins, DL, Horton, WA, Schimke, RN

“…Patients with von Hippel-Lindau disease often develop asymptomatic abdominal manifestations including renal cysts and carcinomas, pheochromocytomas, and…”
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Multiple endocrine neoplasia: how many syndromes? by Schimke, R N

“…The phrase multiple endocrine neoplasia (MEN) generally denotes an association of tumors so specific as to constitute a syndrome. Three well-recognized such…”
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Case report: breast cancer in males--a genetic consideration by Stephens, R L, Schimke, R N

“…For many years, it has been recognized that a portion of female breast cancer is inherited. More recently, the probable contribution of heredity to at least a…”
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Hyperthyroidism. The clinical spectrum by Schimke, R N

“…Among the endocrine disorders, thyroid disease ranks second only to diabetes mellitus in prevalence. Hyperthyroidism accounts for a considerable portion of…”
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Bradykinesia in minimal hepatic encephalopathy is due to disturbances in movement initiation by Joebges, E.Michael, Heidemann, Melanie, Schimke, Nicole, Hecker, Hartmut, Ennen, Jochen C, Weissenborn, Karin

“…Background : One of the predominant symptoms of early stages of hepatic encephalopathy (HE) is bradykinesia. Aims : To further analyze the pathophysiology of…”
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Continuation of a case report by Holmes, G E, Schimke, R N, Goertz, K, Mattioli, L, Richardson, W

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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome by Johnston, Jennifer J., Olivos-Glander, Isabelle, Turner, Joyce, Aleck, Kyrieckos, Bird, Lynne M., Mehta, Lakshmi, Schimke, R. Neil, Heilstedt, Heidi, Spence, J. Edward, Blancato, Jan, Biesecker, Leslie G.

“…Greig cephalopolysyndactyly syndrome (GCPS) is caused by haploinsufficiency of GLI3 on 7p13. Features of GCPS include polydactyly, macrocephaly, and…”
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Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities by Holmes, G E, Schimke, R N

“…We present two male sibs with a series of malformations including microcephaly, mental retardation, congenital heart disease, skeletal abnormalities,…”
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Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy? by Farag, T I, Schimke, R N

“…Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In…”
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