keyword
https://read.qxmd.com/read/32758414/qualitative-and-quantitative-muscle-ultrasound-in-patients-with-duchenne-muscular-dystrophy-where-do-sonographic-changes-begin
#1
JOURNAL ARTICLE
K Vill, M Sehri, C Müller, I Hannibal, V Huf, M Idriess, L Gerstl, M V Bonfert, M Tacke, A S Schroeder, M N Landgraf, W Müller-Felber, A Blaschek
OBJECTIVE: The number of studies investigating and understanding the disease mechanisms of Duchenne muscular dystrophy (DMD) in human clinical trials have increased substantially over the last decade. Suitable clinical instruments for the measurement of disease progress and drug efficiency are mandatory, but currently not available, especially in the youngest patients. The aim of this study was to detect a reproducible pattern of muscle involvement in early stages potentially preceding evidence of motor regression...
June 23, 2020: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/32669210/rare-intronic-mutation-between-exon-62-and-63-c-9225-285a-g-of-the-dystrophin-gene-associated-with-atypical-bmd-phenotype
#2
S C Schüssler, T Gerhalter, A Abicht, W Müller-Felber, A M Nagel, R Trollmann
Dystrophinopathies are predominantly caused by deletions, duplications and point mutations in the coding regions of the dystrophin gene with less than 1% of all pathogenic mutations identified within intronic sequences. We describe a 17-year-old male with a Becker muscular dystrophy diagnosis and mental disability due to an intron mutation that led to aberrant splicing and formation of an additional exon. Histopathological analysis of muscle tissue revealed signs of muscular dystrophy and reduced signal for dystrophin, alpha-sarcoglycan, and alpha-dystroglycan...
June 10, 2020: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/31941581/diagnosis-and-treatment-of-guillain-barr%C3%A3-syndrome-in-childhood-and-adolescence-an-evidence-and-consensus-based-guideline
#3
REVIEW
R Korinthenberg, R Trollmann, U Felderhoff-Müser, G Bernert, A Hackenberg, M Hufnagel, M Pohl, G Hahn, H J Mentzel, C Sommer, J Lambeck, F Mecher, M Hessenauer, C Winterholler, U Kempf, B C Jacobs, K Rostasy, W Müller-Felber
This evidence- and consensus-based practical guideline for the diagnosis and treatment of Guillain-Barré Syndrome (GBS) in childhood and adolescence has been developed by a group of delegates from relevant specialist societies and organisations; it is the result of an initiative by the German-Speaking Society of Neuropediatrics (GNP), and is supported by the Association of Scientific Medical Societies (AWMF, Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften). A systematic analysis of the literature revealed that only a few adequately-controlled studies exist for this particular age group, while none carries a low risk of bias...
March 2020: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/29172004/early-onset-myopathies-clinical-findings-prevalence-of-subgroups-and-diagnostic-approach-in-a-single-neuromuscular-referral-center-in-germany
#4
JOURNAL ARTICLE
K Vill, A Blaschek, D Gläser, M Kuhn, T Haack, B Alhaddad, M Wagner, R Kovacs-Nagy, M Tacke, L Gerstl, A S Schroeder, I Borggraefe, C Mueller, B Schlotter-Weigel, B Schoser, M C Walter, W Müller-Felber
BACKGROUND: Early-onset myopathies are a heterogeneous group of neuromuscular diseases with broad clinical, genetic and histopathological overlap. The diagnostic approach has considerably changed since high throughput genetic methods (next generation sequencing, NGS) became available. OBJECTIVE: We present diagnostic subgroups in a single neuromuscular referral center and describe an algorithm for the diagnostic work-up. METHODS: The diagnostic approach of 98 index patients was retrospectively analysed...
2017: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/29101527/-spinal-muscular-atrophy-time-for-newborn-screening
#5
REVIEW
K Vill, A Blaschek, U Schara, H Kölbel, K Hohenfellner, E Harms, B Olgemöller, Maggie C Walter, W Müller-Felber
The most common neurodegenerative disease in childhood is spinal muscular atrophy (SMA). The severe infantile type 1 (Werdnig-Hoffman disease) makes 60% of SMA in total. These children usually die within 18 months without ventilation. New therapeutic approaches have led from the theoretical concept to randomized controlled clinical trials in patients. For the first time, a pharmacological treatment of SMA has been approved. The early detection of the disease is decisive for the success of therapy. All previous data suggest starting treatment early and when possible prior to the onset of symptoms considerably improves the outcome in comparison to a delayed start...
December 2017: Der Nervenarzt
https://read.qxmd.com/read/29038883/-multiple-sclerosis-in-childhood-and-adolescence-complex-chronic-and-differentiated
#6
REVIEW
A Blaschek, P Huppke, T Kümpfel, W Müller-Felber, K Rostasy
Pediatric multiple sclerosis (MS) is one of the most important acquired neurological disorders in childhood and adolescence. A timely recognition, diagnosis and treatment are of utmost importance. This article highlights the current state of knowledge on the etiology, pathogenesis, diagnosis, clinical presentation and treatment in childhood. Although the rate of progression of disability in the early years is slower in younger patients compared to adults, a disease-modifying therapy should be started once MS is diagnosed...
December 2017: Der Nervenarzt
https://read.qxmd.com/read/28243745/-in-memory-of-dieter-pongratz
#7
JOURNAL ARTICLE
W Müller-Felber, B Schoser
No abstract text is available yet for this article.
February 27, 2017: Zeitschrift Für Rheumatologie
https://read.qxmd.com/read/27068298/proximal-muscular-atrophy-and-weakness-an-unusual-adverse-effect-of-deferasirox-iron-chelation-therapy
#8
JOURNAL ARTICLE
K Vill, W Müller-Felber, V Teusch, A Blaschek, L Gerstl, S Huetker, M H Albert
Deferasirox is a standard treatment for chronic transfusional iron overload. Adverse effects of deferasirox have been reported in large prospective studies. We report two cases of monozygotic twins manifesting with proximal muscular atrophy and weakness under deferasirox. Discontinuation of deferasirox resulted in symptom improvement and ultimately in complete remission five months after successful haematopoietic stem cell transplantation. Broad diagnostic work-up could not bring evidence of another aetiology of muscular weakness...
April 2016: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/25455803/muscle-ultrasound-in-classic-infantile-and-adult-pompe-disease-a-useful-screening-tool-in-adults-but-not-in-infants
#9
JOURNAL ARTICLE
K Vill, J Schessl, V Teusch, S Schroeder, A Blaschek, B Schoser, W Müller-Felber
A cohort of 4 infantile and 15 adult Pompe patients has been investigated regarding correlation between strength and ultrasound of skeletal musculature. In adults, muscle ultrasound is useful to assess clinical and subclinical involvement of muscles. In this study, visible sonographic changes were found in every clinically affected muscle, using a modified Heckmatt scale. In some muscles morphologic changes preceded weakness. Regarding the anatomical pattern of involvement, our findings do not support the hypothesis of a specific pattern with a higher vulnerability of vastus intermedius than rectus femoris, which has been postulated before...
February 2015: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/24368763/abstracts-of-presentations-at-the-international-conference-on-basic-and-clinical-multimodal-imaging-baci-a-joint-conference-of-the-international-society-for-neuroimaging-in-psychiatry-isnip-the-international-society-for-functional-source-imaging-isfsi-the-international
#10
JOURNAL ARTICLE
B J He, G Nolte, K Nagata, D Takano, T Yamazaki, Y Fujimaki, T Maeda, Y Satoh, S Heckers, M S George, F Lopes da Silva, J C de Munck, P J Van Houdt, R M Verdaasdonk, P Ossenblok, K Mullinger, R Bowtell, A P Bagshaw, D Keeser, S Karch, F Segmiller, I Hantschk, A Berman, F Padberg, O Pogarell, F Scharnowski, S Karch, S Hümmer, D Keeser, M Paolini, V Kirsch, G Koller, B Rauchmann, M Kupka, J Blautzik, O Pogarell, N Razavi, K Jann, T Koenig, M Kottlow, M Hauf, W Strik, T Dierks, J Gotman, S Vulliemoz, Y Lu, H Zhang, L Yang, G Worrell, B He, O Gruber, C Piguet, D Hubl, Ph Homan, J Kindler, T Dierks, K Kim, U Steinhoff, R Wakai, T Koenig, M Kottlow, L Melie-García, A Mucci, U Volpe, A Prinster, M Salvatore, S Galderisi, D E J Linden, D Brandeis, C E Schroeder, C Kayser, S Panzeri, A Kleinschmidt, P Ritter, S Walther, J Haueisen, S Lau, L Flemming, H Sonntag, B Maess, T R Knösche, B Lanfer, M Dannhauer, C H Wolters, M Stenroos, J Haueisen, C Wolters, U Aydin, B Lanfer, S Lew, F Lucka, L Ruthotto, J Vorwerk, S Wagner, C Ramon, C Guan, K K Ang, S G Chua, W K Kuah, K S Phua, E Chew, H Zhou, K H Chuang, B T Ang, C Wang, H Zhang, H Yang, Z Y Chin, H Yu, Y Pan, L Collins, B Mainsah, K Colwell, K Morton, D Ryan, E Sellers, K Caves, S Throckmorton, A Kübler, E M Holz, C Zickler, E Sellers, D Ryan, K Brown, K Colwell, B Mainsah, K Caves, S Throckmorton, L Collins, R Wennberg, S P Ahlfors, C Grova, R Chowdhury, T Hedrich, M Heers, R Zelmann, J A Hall, J M Lina, E Kobayashi, T Oostendorp, P van Dam, P Oosterhof, A Linnenbank, R Coronel, P van Dessel, J de Bakker, B Rossion, C Jacques, N Witthoft, K S Weiner, B L Foster, K J Miller, D Hermes, J Parvizi, K Grill-Spector, G H Recanzone, M M Murray, J D Haynes, J Richiardi, M Greicius, M De Lucia, K-R Müller, E Formisano, R Smieskova, A Schmidt, K Bendfeldt, A Walter, A Riecher-Rössler, S Borgwardt, P Fusar-Poli, S Eliez, A Schmidt, K Sekihara, S S Nagarajan, J M Schoffelen, A G Guggisberg, G Nolte, S Balazs, K Kermanshahi, W Kiesenhofer, H Binder, F Rattay, A Antal, L Chaieb, W Paulus, I Bodis-Wollner, K Maurer, G Fein, J Camchong, J Johnstone, V Cardenas-Nicolson, L D J Fiederer, F Lucka, S Yang, J Vorwerk, M Dümpelmann, D Cosandier-Rimélé, A Schulze-Bonhage, A Aertsen, O Speck, C H Wolters, T Ball, M Fuchs, M Wagner, J Kastner, R Tech, C Dinh, J Haueisen, D Baumgarten, M S Hämäläinen, S Lau, S J Vogrin, W D'Souza, J Haueisen, M J Cook, A Custo, D Van De Ville, S Vulliemoz, F Grouiller, C M Michel, J Malmivuo, U Aydin, J Vorwerk, P Küpper, M Heers, H Kugel, J Wellmer, C Kellinghaus, M Scherg, S Rampp, C Wolters, S F Storti, I Boscolo Galazzo, A Del Felice, F B Pizzini, C Arcaro, E Formaggio, R Mai, P Manganotti, L Koessler, J Vignal, T Cecchin, S Colnat-Coulbois, H Vespignani, G Ramantani, L Maillard, I Rektor, R Kuba, M Brázdil, J Chrastina, I Rektorova, P van Mierlo, E Carrette, G Strobbe, V Montes-Restrepo, K Vonck, S Vandenberghe, B Ahmed, C Brodely, C Carlson, R Kuzniecky, O Devinsky, J French, T Thesen, D Bénis, O David, J-P Lachaux, E Seigneuret, P Krack, V Fraix, S Chabardès, J Bastin, K Jann, D Gee, E Kilroy, T Cannon, D J Wang, J R Hale, S D Mayhew, I Przezdzik, T N Arvanitis, A P Bagshaw, G Plomp, C Quairiaux, L Astolfi, C M Michel, S D Mayhew, K J Mullinger, A P Bagshaw, R Bowtell, S T Francis, A C Schouten, S F Campfens, H van der Kooij, Z Koles, J Lind, P Flor-Henry, M Wirth, C M Haase, S Villeneuve, J Vogel, W J Jagust, L Kambeitz-Ilankovic, L Simon-Vermot, B Gesierich, M Duering, M Ewers, I Rektorova, L Krajcovicova, R Marecek, M Mikl, T Bracht, H Horn, W Strik, A Federspiel, S Schnell, O Höfle, K Stegmayer, R Wiest, T Dierks, T J Müller, S Walther, T Surmeli, A Ertem, E Eralp, I H Kos, W Skrandies, S Flüggen, A Klein, J Britz, L Díaz Hernàndez, T Ro, C M Michel, A Lenartowicz, E Lau, C Rodriguez, M S Cohen, S K Loo, G Di Lorenzo, M Pagani, L Monaco, A Daverio, I Giannoudas, P La Porta, A R Verardo, C Niolu, I Fernandez, A Siracusano, P Flor-Henry, J Lind, Z Koles, S Bollmann, C Ghisleni, R O'Gorman, S-S Poil, P Klaver, L Michels, E Martin, J Ball, D Eich-Höchli, D Brandeis, D F Salisbury, T K Murphy, C D Butera, D H Mathalon, S L Fryer, K A Kiehl, V C Calhoun, G D Pearlson, B J Roach, J M Ford, T H McGlashan, S W Woods, U Volpe, E Merlotti, A Vignapiano, V Montefusco, G M Plescia, O Gallo, P Romano, A Mucci, S Galderisi, G Mingoia, K Langbein, M Dietzek, G Wagner, Smesny, S Scherpiet, R Maitra, Ch Gaser, H Sauer, I Nenadic, S Gonzalez Andino, R Grave de Peralta Menendez, R Grave de Peralta Menendez, M Sanchez Vives, B Rebollo, S Gonzalez Andino, L Frølich, T S Andersen, M Mørup, P Belfiore, P Gargiulo, C Ramon, S Vanhatalo, J-H Cho, J Vorwerk, C H Wolters, T R Knösche, T Watanabe, Y Kawabata, D Ukegawa, S Kawabata, Y Adachi, K Sekihara, K Sekihara, S S Nagarajan, S Wagner, U Aydin, J Vorwerk, C Herrmann, M Burger, C Wolters, F Lucka, U Aydin, J Vorwerk, M Burger, Ch Wolters, M Bauer, L Trahms, T Sander, P L Faber, D Lehmann, L R R Gianotti, R D Pascual-Marqui, P Milz, K Kochi, S Kaneko, S Yamashita, K Yana, K Kalogianni, A N Vardy, A C Schouten, F C T van der Helm, A Sorrentino, G Luria, R Aramini, A Hunold, M Funke, R Eichardt, J Haueisen, F Gómez-Aguilar, S Vázquez-Olvera, T Cordova-Fraga, J Castro-López, M A Hernández-Gonzalez, S Solorio-Meza, M Sosa-Aquino, J J Bernal-Alvarado, M Vargas-Luna, J Vorwerk, L Magyari, J Ludewig, R Oostenveld, C H Wolters, J Vorwerk, C Engwer, J Ludewig, Ch Wolters, K Sato, T Nishibe, M Furuya, K Yamashiro, K Yana, T Ono, N Puthanmadam Subramaniyam, J Hyttinen, S Lau, D Güllmar, L Flemming, J Haueisen, H Sonntag, J Vorwerk, C H Wolters, L Grasedyck, J Haueisen, B Maeß, S Freitag, U Graichen, P Fiedler, D Strohmeier, J Haueisen, M Stenroos, O Hauk, M Grigutsch, M Felber, B Maess, B Herrmann, G Strobbe, P van Mierlo, S Vandenberghe, G Strobbe, D Cárdenas-Peña, V Montes-Restrepo, P van Mierlo, G Castellanos-Dominguez, S Vandenberghe, B Lanfer, I Paul-Jordanov, M Scherg, C H Wolters, Y Ito, D Sato, K Kamada, T Kobayashi, S S Dalal, S Rampp, F Willomitzer, O Arold, S Fouladi-Movahed, G Häusler, H Stefan, S Ettl, S Zhang, Y Zhang, H Li, X Kong, V Montes-Restrepo, G Strobbe, P van Mierlo, S Vandenberghe, D D E Wong, A Bidet-Caulet, R T Knight, N E Crone, S S Dalal, G Birot, L Spinelli, S Vulliémoz, M Seeck, C M Michel, H Emory, C Wells, N Mizrahi, S J Vogrin, S Lau, M J Cook, F I Karahanoglu, F Grouiller, C Caballero-Gaudes, M Seeck, S Vulliemoz, D Van De Ville, L Spinelli, P Megevand, M Genetti, K Schaller, C Michel, S Vulliemoz, M Seeck, M Genetti, R Tyrand, F Grouiller, S Vulliemoz, L Spinelli, M Seeck, K Schaller, C M Michel, F Grouiller, S Heinzer, B Delattre, F Lazeyras, L Spinelli, F Pittau, M Seeck, O Ratib, M Vargas, V Garibotto, S Vulliemoz, S J Vogrin, C A Bailey, M Kean, A E Warren, A Davidson, M Seal, A S Harvey, J S Archer, M Papadopoulou, M Leite, P van Mierlo, K Vonck, P Boon, K Friston, D Marinazzo, C Ramon, M Holmes, L Koessler, E Rikir, M Gavaret, F Bartolomei, J P Vignal, H Vespignani, L Maillard, M Centeno, S Perani, K Pier, L Lemieux, J Clayden, C Clark, R Pressler, H Cross, D W Carmichael, A Spring, R Bessemer, D Pittman, Y Aghakhani, P Federico, F Pittau, F Grouiller, S Vulliémoz, J Gotman, J M Badier, C-G Bénar, F Bartolomei, C Cruto, P Chauvel, M Gavaret, V Brodbeck, T van Leeuwen, E Tagliazzuchi, L Melloni, H Laufs, I Griskova-Bulanova, K Dapsys, C Klein, J Hänggi, L Jäncke, B V Ehinger, P Fischer, A L Gert, L Kaufhold, F Weber, M Marchante Fernandez, G Pipa, P König, K Sekihara, E Hiyama, R Koga, E Iannilli, C M Michel, A-L Bartmuss, N Gupta, T Hummel, R Boecker, N Holz, A F Buchmann, D Blomeyer, M M Plichta, I Wolf, S Baumeister, A Meyer-Lindenberg, T Banaschewski, D Brandeis, M Laucht, S Natahara, M Ueno, T Kobayashi, M Kottlow, A Bänninger, T Koenig, S Schwab, T Koenig, A Federspiel, T Dierks, K Jann, H Natsukawa, T Kobayashi, L Tüshaus, T Koenig, M Kottlow, P Achermann, R S Wilson, S D Mayhew, S Assecondi, T N Arvanitis, A P Bagshaw, A Darque, T A Rihs, F Grouiller, F Lazeyras, R Ha-Vinh Leuchter, C Caballero, C M Michel, P S Hüppi, T U Hauser, L T Hunt, R Iannaccone, P Stämpfli, D Brandeis, R J Dolan, S Walitza, S Brem, U Graichen, R Eichardt, P Fiedler, D Strohmeier, S Freitag, F Zanow, J Haueisen, L Lordier, F Grouiller, D Van de Ville, A Sancho Rossignol, I Cordero, F Lazeyras, F Ansermet, P Hüppi, A Schläpfer, K Rubia, D Brandeis, G Di Lorenzo, M Pagani, L Monaco, A Daverio, I Giannoudas, A R Verardo, P La Porta, C Niolu, I Fernandez, A Siracusano, K Tamura, C Karube, T Mizuba, M Matsufuji, S Takashima, K Iramina, S Assecondi, D Ostwald, A P Bagshaw, R Marecek, M Brazdil, M Lamos, T Slavícek, R Marecek, J Jan, N M Meier, W Perrig, T Koenig, T Minami, Y Noritake, S Nakauchi, K Azuma, T Minami, S Nakauchi, C Rodriguez, A Lenartowicz, M S Cohen, C Rodriguez, A Lenartowicz, M S Cohen, K Iramina, H Kinoshita, K Tamura, C Karube, M Kaneko, J Ide, Y Noguchi, M S Cohen, P K Douglas, C M Rodriguez, H J Xia, E M Zimmerman, C J Konopka, P S Epstein, L M Konopka, S Giezendanner, M Fisler, L Soravia, J Andreotti, R Wiest, T Dierks, A Federspiel, N Razavi, A Federspiel, T Dierks, M Hauf, K Jann, K Kamada, D Sato, Y Ito, K Okano, N Mizutani, T Kobayashi, A Thelen, M Murray, L Pastena, E Formaggio, S F Storti, F Faralli, M Melucci, R Gagliardi, L Ricciardi, G Ruffino, A Coito, P Macku, R Tyrand, L Astolfi, B He, R Wiest, M Seeck, C Michel, G Plomp, S Vulliemoz, F Ph S Fischmeister, J Glaser, V Schöpf, H Bauer, R Beisteiner, F Deligianni, M Centeno, D W Carmichael, J Clayden, G Mingoia, K Langbein, M Dietzek, G Wagner, St Smesny, S Scherpiet, R Maitra, Ch Gaser, H Sauer, I Nenadic, S Dürschmid, T Zaehle, H Pannek, H F Chang, J Voges, J Rieger, R T Knight, H-J Heinze, H Hinrichs, V Tsatsishvili, F Cong, T Puoliväli, V Alluri, P Toiviainen, A K Nandi, E Brattico, T Ristaniemi, M Grieder, R M Crinelli, K Jann, A Federspiel, M Wirth, T Koenig, M Stein, L-O Wahlund, T Dierks, H Atsumori, R Yamaguchi, Y Okano, H Sato, T Funane, K Sakamoto, M Kiguchi, A Tränkner, S Schindler, F Schmidt, M Strauß, R Trampel, U Hegerl, R Turner, S Geyer, P Schönknecht, V Kebets, M van Assche, R Goldstein, M van der Meulen, P Vuilleumier, J Richiardi, D Van De Ville, F Assal, A Wozniak-Kwasniewska, D Szekely, S Harquel, T Bougerol, O David, T Bracht, D K Jones, H Horn, T J Müller, S Walther, P Sos, M Klirova, T Novak, M Brunovsky, J Horacek, M Bares, C Hoschl C, I Fellhauer, F G Zöllner, J Schröder, L Kong, M Essig, L R Schad, J Arrubla, I Neuner, D Hahn, F Boers, N Jon Shah, I Neuner, J Arrubla, D Hahn, F Boers, N Jon Shah, M Suriya Prakash, R Sharma, H Kawaguchi, T Kobayashi, P Fiedler, S Griebel, S Biller, C Fonseca, F Vaz, L Zentner, F Zanow, J Haueisen, V Rochas, T Rihs, G Thut, N Rosenberg, Th Landis, Ch Michel, V Moliadze, T Schmanke, E Lyzhko, S Bassüner, Ch Freitag, M Siniatchkin, R Thézé, A G Guggisberg, L Nahum, A Schnider, L Meier, H Friedrich, K Jann, B Landis, R Wiest, A Federspiel, W Strik, T Dierks, M Witte, S E Kober, C Neuper, G Wood, R König, A Matysiak, W Kordecki, C Sieluzycki, N Zacharias, P Heil, C Wyss, F Boers, J Arrubla, J Dammers, W Kawohl, I Neuner, N J Shah, C Braboszcz, R B Cahn, J Levy, M Fernandez, A Delorme, L Rosas-Martinez, E Milne, Y Zheng, Y Urakami, K Kawamura, Y Washizawa, K Hiyoshi, A Cichocki, N Giroud, V Dellwo, M Meyer, K S Rufener, F Liem, V Dellwo, M Meyer, J D Jones-Rounds, R Raizada, W Staljanssens, G Strobbe, P van Mierlo, R Van Holen, S Vandenberghe, M Pefkou, R Becker, C Michel, A Hervais-Adelman, W He, J Brock, B Johnson, K Ohla, K Hitz, K Heekeren, C Obermann, T Huber, G Juckel, W Kawohl, D Gabriel, A Comte, J Henriques, E Magnin, L Grigoryeva, J-P Ortega, E Haffen, T Moulin, L Pazart, R Aubry, M Kukleta, B Baris Turak, J Louvel, M Crespo-Garcia, J L Cantero, M Atienza, S Connell, K Kilborn, A Damborská, M Brázdil, I Rektor, M Kukleta, J L Koberda, A Bienkiewicz, I Koberda, P Koberda, A Moses, M Tomescu, T Rihs, J Britz, A Custo, F Grouiller, M Schneider, M Debbané, S Eliez, Ch Michel, G Y Wang, R Kydd, T A Wouldes, M Jensen, B R Russell, N Dissanayaka, T Au, A Angwin, J O'Sullivan, G Byrne, P Silburn, R Marsh, G Mellic, D Copland, A Bänninger, M Kottlow, L Díaz Hernàndez, T Koenig, L Díaz Hernàndez, A Bänninger, T Koenig, T U Hauser, R Iannaccone, C Mathys, J Ball, R Drechsler, D Brandeis, S Walitza, S Brem, P H Boeijinga, E W Pang, T Valica, M J Macdonald, A Oh, J P Lerch, E Anagnostou, G Di Lorenzo, M Pagani, L Monaco, A Daverio, A R Verardo, I Giannoudas, P La Porta, C Niolu, I Fernandez, A Siracusano, T Shimada, Y Matsuda, A Monkawa, T Monkawa, R Hashimoto, K Watanabe, Y Kawasaki, Y Matsuda, T Shimada, T Monkawa, A Monkawa, K Watanabe, Y Kawasaki, K Stegmayer, H Horn, A Federspiel, N Razavi, T Bracht, K Laimböck, W Strik, T Dierks, R Wiest, T J Müller, S Walther, L J Koorenhof, S J Swithenby, A Martins-Mourao, T A Rihs, M Tomescu, K W Song, A Custo, J F Knebel, M Murray, S Eliez, C M Michel, U Volpe, E Merlotti, A Vignapiano, V Montefusco, G M Plescia, O Gallo, P Romano, A Mucci, S Galderisi, K Laimboeck, K Jann, S Walther, A Federspiel, R Wiest, W Strik, H Horn
No abstract text is available yet for this article.
December 24, 2013: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://read.qxmd.com/read/24300782/somatropin-treatment-of-spinal-muscular-atrophy-a-placebo-controlled-double-blind-crossover-pilot-study
#11
RANDOMIZED CONTROLLED TRIAL
J Kirschner, D Schorling, D Hauschke, C Rensing-Zimmermann, U Wein, U Grieben, G Schottmann, U Schara, K Konrad, W Müller-Felber, S Thiele, E Wilichowski, E Hobbiebrunken, G M Stettner, R Korinthenberg
In preclinical studies growth hormone and its primary mediator IGF-1 have shown potential to increase muscle mass and strength. A single patient with spinal muscular atrophy reported benefit after compassionate use of growth hormone. Therefore we evaluated the efficacy and safety of growth hormone treatment for spinal muscular atrophy in a multicenter, randomised, double-blind, placebo-controlled, crossover pilot trial. Patients (n = 19) with type II/III spinal muscular atrophy were randomised to receive either somatropin (0...
February 2014: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/23970402/-quality-of-life-after-brachial-plexus-lesions-in-adults
#12
JOURNAL ARTICLE
M Holdenried, T L Schenck, J Akpaloo, W Müller-Felber, T Holzbach, R E Giunta
Brachial plexus lesions are among the most severe injuries of the upper extremity. Despite intensive conservative and surgical treatment efforts, patients frequently suffer from serious impairments in the quality of life. This contribution presents the results of a retrospective clinical survey on the quality of life after brachial plexus injuries. Out of 38 treated patients, 25 patients could be included in the study. The disability of arm, shoulder and hand was evaluated by the DASH score and the quality of life by the FLZm, a questionnaire on life satisfaction...
August 2013: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://read.qxmd.com/read/23681354/early-white-matter-changes-in-childhood-multiple-sclerosis-a-diffusion-tensor-imaging-study
#13
JOURNAL ARTICLE
A Blaschek, D Keeser, S Müller, I K Koerte, A Sebastian Schröder, W Müller-Felber, F Heinen, B Ertl-Wagner
BACKGROUND AND PURPOSE: Loss of integrity in nonlesional white matter occurs as a fundamental feature of multiple sclerosis in adults. The purpose of our study was to evaluate DTI-derived measures of white matter microstructure in children with MS compared with age- and sex-matched controls by using tract-based spatial statistics. MATERIALS AND METHODS: Fourteen consecutive pediatric patients with MS (11 female/3 male; mean age, 15.1 ± 1.6 years; age range, 12-17 years) and age- and sex-matched healthy subjects (11 female/3 male; mean age, 14...
October 2013: AJNR. American Journal of Neuroradiology
https://read.qxmd.com/read/22528065/-anti-suicidal-effect-of-lithium-current-state-of-research-and-its-clinical-implications-for-the-long-term-treatment-of-affective-disorders
#14
REVIEW
U Lewitzka, M Bauer, W Felber, B Müller-Oerlinghausen
Treatment of patients with suicidal behaviour is one of the most challenging tasks for health care professionals. Due to the high mortality, morbidity and costs related to suicide, the development of treatment and preventive strategies for suicidal behaviour have been a focus of psychiatric research. For lithium, one of the oldest pharmacological agents used in psychiatry, anti-suicidal effects have been found since the early 90s in many international studies. Despite this unambiguous evidence and corresponding recommendations in national and international guidelines for the acute and maintenance therapy of affective disorders, the use of lithium is still underrepresented...
March 2013: Der Nervenarzt
https://read.qxmd.com/read/21509702/-splints-in-birth-related-brachial-plexus-injuries
#15
JOURNAL ARTICLE
T L Schenck, T Bayer, A Enders, M-A Marton, H-G Machens, W Müller-Felber, R E Giunta
Most cases of obstetrical brachial plexus palsies are mild traction injuries which resolve under physical therapy within several weeks or months. Severe ruptures or avulsion injuries of the plexus can lead to lifelong impairment of the upper extremities. Hence, in severe brachial plexus injuries the indications for brachial plexus reconstruction should be evaluated, early. At the age of about 3 months, the infant should be presented in a centre specialised in obstetrical brachial plexus palsies. In almost all cases intensive physical therapy is performed...
April 2011: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://read.qxmd.com/read/19687455/consequences-of-mutations-within-the-c-terminus-of-the-fhl1-gene
#16
JOURNAL ARTICLE
B Schoser, H H Goebel, I Janisch, S Quasthoff, J Rother, M Bergmann, W Müller-Felber, C Windpassinger
BACKGROUND: Mutations in the four-and-a-half LIM domain 1 gene (FHL1) cause X-linked late-onset scapuloaxioperoneal myopathy characterized by postural muscle atrophy with rigid spine syndrome with pseudoathleticism/hypertrophy (XMPMA), reducing body myopathy (RBM), and scapuloperoneal myopathy. Divergences in these diseases are hitherto unclear; therefore, we searched for additional families to elucidate differences and similarities of these allelic FHL1opathies. METHODS: Using genotyping and phenotyping (mutational analysis, muscle histopathology, and Western blotting) we characterized 10 affected men and 8 women from 7 families...
August 18, 2009: Neurology
https://read.qxmd.com/read/19649685/enzyme-replacement-therapy-with-alglucosidase-alfa-in-44-patients-with-late-onset-glycogen-storage-disease-type-2-12-month-results-of-an-observational-clinical-trial
#17
JOURNAL ARTICLE
S Strothotte, N Strigl-Pill, B Grunert, C Kornblum, K Eger, C Wessig, M Deschauer, F Breunig, F X Glocker, S Vielhaber, A Brejova, M Hilz, K Reiners, W Müller-Felber, E Mengel, M Spranger, Benedikt Schoser
Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid alpha-glucosidase (GAA) activity. GSD2 is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. Since 2006 alglucosidase alfa has been licensed as a treatment in all types of GSD2/Pompe disease. We here present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 44 late-onset GSD2 patients with various stages of disease severity...
January 2010: Journal of Neurology
https://read.qxmd.com/read/19538466/mitochondrial-dna-depletion-and-fatal-infantile-hepatic-failure-due-to-mutations-in-the-mitochondrial-polymerase-%C3%AE-polg-gene-a-combined-morphological-enzyme-histochemical-and-immunocytochemical-biochemical-and-molecular-genetic-study
#18
JOURNAL ARTICLE
J Müller-Höcker, R Horvath, S Schäfer, H Hessel, W Müller-Felber, J Kühr, W C Copeland, P Seibel
Combined morphological, immunocytochemical, biochemical and molecular genetic studies were performed on skeletal muscle, heart muscle and liver tissue of a 16-months boy with fatal liver failure. The pathological characterization of the tissues revealed a severe depletion of mtDNA (mitochondrial DNA) that was most pronounced in liver, followed by a less severe, but still significant depletion in skeletal muscle and the heart. The primary cause of the disease was linked to compound heterozygous mutations in the polymerase γ (POLG) gene (DNA polymerase γ; A467T, K1191N)...
February 2011: Journal of Cellular and Molecular Medicine
https://read.qxmd.com/read/18808400/adjunctive-lithium-treatment-in-the-prevention-of-suicidal-behaviour-in-depressive-disorders-a-randomised-placebo-controlled-1-year-trial
#19
RANDOMIZED CONTROLLED TRIAL
E Lauterbach, W Felber, B Müller-Oerlinghausen, B Ahrens, T Bronisch, T Meyer, B Kilb, U Lewitzka, B Hawellek, A Quante, K Richter, A Broocks, F Hohagen
OBJECTIVE: Evidence based on controlled studies is still limited for treatment strategies that prevent recurrence of suicide attempts. Findings from observational as well as meta-analytic studies strongly suggest that lithium may have suicide-protective properties. METHOD: Patients with a recent suicide attempt in the context of an affective spectrum disorder (n = 167) were treated with either lithium or placebo during a 12-month period. RESULTS: Survival analysis showed no significant difference of suicidal acts between lithium and placebo-treated individuals (adjusted hazard ratio 0...
December 2008: Acta Psychiatrica Scandinavica
https://read.qxmd.com/read/18415608/-diagnostic-considerations-in-muscle-pain
#20
JOURNAL ARTICLE
W Müller-Felber, D Pongratz
Although the greatest part of the human body is composed of muscle, diseases of the muscle, such as muscular dystrophies and inflamatory or metabolic myopathies, occur invery few patients. On the other hand, myalgia is one of the most common symptoms in routine clinical medicine. This is problematic, because muscular pain can be caused by many different physical and psychiatric diseases. In order to avoid unecessary and expensive laboratory tests a careful examination of clinical symptoms and signs is necessary...
September 1992: Der Schmerz
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