Works matching AU Walter, Maggie C

Results: 76

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 395, doi. 10.1002/humu.22758

By:

Bladen, Catherine L.;
Salgado, David;
Monges, Soledad;
Foncuberta, Maria E.;
Kekou, Kyriaki;
Kosma, Konstantina;
Dawkins, Hugh;
Lamont, Leanne;
Roy, Anna J.;
Chamova, Teodora;
Guergueltcheva, Velina;
Chan, Sophelia;
Korngut, Lawrence;
Campbell, Craig;
Dai, Yi;
Wang, Jen;
Barišić, Nina;
Brabec, Petr;
Lahdetie, Jaana;
Walter, Maggie C.

Publication type:

Article

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation.

Published in:

Human Mutation, 2013, v. 34, n. 8, p. 1111, doi. 10.1002/humu.22342

By:

Sarkozy, Anna;
Hicks, Debbie;
Hudson, Judith;
Laval, Steve H.;
Barresi, Rita;
Hilton‐Jones, David;
Deschauer, Marcus;
Harris, Elizabeth;
Rufibach, Laura;
Hwang, Esther;
Bashir, Rumaisa;
Walter, Maggie C.;
Krause, Sabine;
Bergh, Peter;
Illa, Isabel;
Pénisson‐Besnier, Isabelle;
Waele, Liesbeth;
Turnbull, Doug;
Guglieri, Michela;
Schrank, Bertold

Publication type:

Article

Alterations of excitation-contraction coupling and excitation coupled Ca.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 309, doi. 10.1002/humu.21431

By:

Ullrich, Nina D.;
Fischer, Dirk;
Kornblum, Cornelia;
Walter, Maggie C.;
Niggli, Ernst;
Zorzato, Francesco;
Treves, Susan

Publication type:

Article

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 757, doi. 10.1002/acn3.51042

By:

Murphy, Lindsay B.;
Schreiber‐Katz, Olivia;
Rafferty, Karen;
Robertson, Agata;
Topf, Ana;
Willis, Tracey A.;
Heidemann, Marcel;
Thiele, Simone;
Bindoff, Laurence;
Laurent, Jean‐Pierre;
Lochmüller, Hanns;
Mathews, Katherine;
Mitchell, Claudia;
Stevenson, John Herbert;
Vissing, John;
Woods, Lacey;
Walter, Maggie C.;
Straub, Volker

Publication type:

Article

Nuclear Small Dystrophin Isoforms during Muscle Differentiation.

Published in:

Life (2075-1729), 2023, v. 13, n. 6, p. 1367, doi. 10.3390/life13061367

By:

Donandt, Tina;
Todorow, Vanessa;
Hintze, Stefan;
Graupner, Alexandra;
Schoser, Benedikt;
Walter, Maggie C.;
Meinke, Peter

Publication type:

Article

Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy.

Published in:

Life (2075-1729), 2022, v. 12, n. 10, p. 1668, doi. 10.3390/life12101668

By:

Donandt, Tina;
Hintze, Stefan;
Krause, Sabine;
Wolf, Eckhard;
Schoser, Benedikt;
Walter, Maggie C.;
Meinke, Peter

Publication type:

Article

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation.

Published in:

European Neurology, 2009, v. 62, n. 3, p. 161, doi. 10.1159/000227266

By:

McNeill, Alisdair;
Birchall, Daniel;
Straub, Volker;
Goldfarb, Lev;
Reilich, Peter;
Walter, Maggie C.;
Schramm, Nicolai;
Lochmüller, Hanns;
Chinnery, Patrick F.

Publication type:

Article

Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.

Published in:

Journal of Medical Economics, 2022, v. 25, n. 1, p. 808, doi. 10.1080/13696998.2022.2085444

By:

Landfeldt, Erik;
Zhang, Rongrong;
Childs, Anne-Marie;
Johannsen, Jessika;
O'Rourke, Declan;
Sejersen, Thomas;
Strautmanis, Jurgis;
Schara-Schmidt, Ulrike;
Tulinius, Mar;
Walter, Maggie C.;
Willis, Tracey;
Buesch, Katharina

Publication type:

Article

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.

Published in:

2019

By:

König, Kirsten;
Pechmann, Astrid;
Thiele, Simone;
Walter, Maggie C.;
Schorling, David;
Tassoni, Adrian;
Lochmüller, Hanns;
Müller-Reible, Clemens;
Kirschner, Janbernd

Publication type:

journal article

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.

Published in:

2019

By:

Pechmann, Astrid;
König, Kirsten;
Bernert, Günther;
Schachtrup, Kristina;
Schara, Ulrike;
Schorling, David;
Schwersenz, Inge;
Stein, Sabine;
Tassoni, Adrian;
Vogt, Sibylle;
Walter, Maggie C.;
Lochmüller, Hanns;
Kirschner, Janbernd

Publication type:

journal article

Inclusion body myositis—health-related quality of life and care situation during phases of the "patience journey" in Germany: results from a qualitative study.

Published in:

Health & Quality of Life Outcomes, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12955-023-02196-w

By:

Senn, Katja C.;
Thiele, Simone;
Gumbert, Laura;
Krause, Sabine;
Walter, Maggie C.;
Nagels, Klaus H.

Publication type:

Article

A new web-based method for automated analysis of muscle histology.

Published in:

BMC Musculoskeletal Disorders, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2474-14-26

By:

Pertl, Cordula;
Eblenkamp, Markus;
Pertl, Anja;
Pfeifer, Stefan;
Wintermantel, Erich;
Lochmüller, Hanns;
Walter, Maggie C.;
Krause, Sabine;
Thirion, Christian

Publication type:

Article

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.

Published in:

Journal of Neurology, 2005, v. 252, n. 5, p. 538, doi. 10.1007/s00415-005-0684-4

By:

Fischer, Dirk;
Walter, Maggie C.;
Kesper, Kristina;
Petersen, Jens A.;
Aurino, Stefania;
Nigro, Vincenzo;
Kubisch, Christian;
Meindl, Thomas;
Lochmüller, Hanns;
Wilhelm, Kai;
Urbach, Horst;
Schröder, Rolf

Publication type:

Article

The long-term outcome of anti-Jo-1-positive inflammatory myopathies.

Published in:

Journal of Neurology, 2004, v. 251, n. 7, p. 859, doi. 10.1007/s00415-004-0449-5

By:

Späth, Michael;
Schröder, Mira;
Schlotter-Weigel, Beate;
Walter, Maggie C.;
Hautmann, Hubert;
Leinsinger, Gerda;
Pongratz, Dieter;
Müller-Felber, Wolfgang

Publication type:

Article

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

Published in:

Journal of Neurology, 2003, v. 250, n. 12, p. 1431, doi. 10.1007/s00415-003-0234-x

By:

Walter, Maggie C.;
Braun, Christian;
Vorgerd, Matthias;
Poppe, Maja;
Thirion, Christian;
Schmidt, Carolin;
Schreiber, Herbert;
Knirsch, Ursula I.;
Brummer, Dagmar;
Müller-Felber, Wolfgang;
Pongratz, Dieter;
Müller-Höcker, Josef;
Huebner, Angela;
Lochmüller, Hanns

Publication type:

Article

Analysis of HLA class I and II alleles in sporadic inclusion-body myositis.

Published in:

Journal of Neurology, 2003, v. 250, n. 11, p. 1313, doi. 10.1007/s00415-003-0204-3

By:

Lampe, Johannes B.;
Gossrau, Gudrun;
Kempe, Andrea;
Füssel, Monika;
Schwurack, Katja;
Schröder, Rolf;
Krause, Sabine;
Kohnen, Ralf;
Walter, Maggie C.;
Reichmann, Heinz;
Lochmüller, Hanns

Publication type:

Article

Creatine monohydrate in myotonic dystrophy : A double-blind, placebo-controlled clinical study.

Published in:

Journal of Neurology, 2002, v. 249, n. 12, p. 1717, doi. 10.1007/s00415-002-0923-x

By:

Walter, Maggie C.;
Reilich, Peter;
Lochmüller, Hanns;
Kohnen, Ralph;
Schlotter, Beate;
Hautmann, Hubert;
Dunkl, Elmar;
Pongratz, Dieter;
Müller-Felber, Wolfgang

Publication type:

Article

High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study.

Published in:

Journal of Neurology, 2000, v. 247, n. 1, p. 22, doi. 10.1007/s004150050005

By:

Walter, Maggie C.;
Lochmüller, Hanns;
Toepfer, Marcel;
Schlotter, Beate;
Reilich, Peter;
Schröder, Mira;
Müller-Felber, Wofgang;
Pongratz, Dieter

Publication type:

Article

Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V

Published in:

Der Nervenarzt, 2020, v. 91, n. 6, p. 518, doi. 10.1007/s00115-020-00919-8

By:

Ziegler, Andreas;
Wilichowski, Ekkehard;
Schara, Ulrike;
Hahn, Andreas;
Müller-Felber, Wolfgang;
Johannsen, Jessika;
von der Hagen, Maja;
von Moers, Arpad;
Stoltenburg, Corinna;
Saffari, Afshin;
Walter, Maggie C.;
Husain, Ralf A.;
Pechmann, Astrid;
Köhler, Cornelia;
Horber, Veronka;
Schwartz, Oliver;
Kirschner, Janbernd

Publication type:

Article

Therapieevaluation bei Patienten mit 5q-assoziierter spinaler Muskelatrophie.

Published in:

Der Nervenarzt, 2019, v. 90, n. 4, p. 343, doi. 10.1007/s00115-018-0653-7

By:

Walter, Maggie C.;
Dräger, Bianca;
Günther, Rene;
Hermann, Andreas;
Hagenacker, Tim;
Kleinschnitz, Christoph;
Löscher, Wolfgang;
Meyer, Thomas;
Schrank, Berthold;
Schwersenz, Inge;
Wurster, Claudia D.;
Ludolph, Albert C.;
Kirschner, Janbernd

Publication type:

Article

Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068958

By:

Stevens, Elizabeth;
Torelli, Silvia;
Feng, Lucy;
Phadke, Rahul;
Walter, Maggie C.;
Schneiderat, Peter;
Eddaoudi, Ayad;
Sewry, Caroline A.;
Muntoni, Francesco

Publication type:

Article

An Integrated Diagnosis Strategy for Congenital Myopathies.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067527

By:

Böhm, Johann;
Vasli, Nasim;
Malfatti, Edoardo;
Le Gras, Stéphanie;
Feger, Claire;
Jost, Bernard;
Monnier, Nicole;
Brocard, Julie;
Karasoy, Hatice;
Gérard, Marion;
Walter, Maggie C.;
Reilich, Peter;
Biancalana, Valérie;
Kretz, Christine;
Messaddeq, Nadia;
Marty, Isabelle;
Lunardi, Joël;
Romero, Norma B.;
Laporte, Jocelyn

Publication type:

Article

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle.

Published in:

Muscle & Nerve, 2003, v. 27, n. 5, p. 624, doi. 10.1002/mus.10341

By:

Patrick Dunant;
Maggie C. Walter;
George Karpati;
Hanns Lochmüller

Publication type:

Article

Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol.

Published in:

2008

By:

Schramm N;
Born C;
Weckbach S;
Reilich P;
Walter MC;
Reiser MF;
Schramm, Nicolai;
Born, Christine;
Weckbach, Sabine;
Reilich, Peter;
Walter, Maggie C;
Reiser, Maximilian F

Publication type:

journal article

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4368, doi. 10.1093/hmg/ddt287

By:

Klymiuk, Nikolai;
Blutke, Andreas;
Graf, Alexander;
Krause, Sabine;
Burkhardt, Katinka;
Wuensch, Annegret;
Krebs, Stefan;
Kessler, Barbara;
Zakhartchenko, Valeri;
Kurome, Mayuko;
Kemter, Elisabeth;
Nagashima, Hiroshi;
Schoser, Benedikt;
Herbach, Nadja;
Blum, Helmut;
Wanke, Rüdiger;
Aartsma-Rus, Annemieke;
Thirion, Christian;
Lochmüller, Hanns;
Walter, Maggie C.

Publication type:

Article

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02639-z

By:

Leibrock, Berenike;
Landfeldt, Erik;
Hussong, Justine;
Huelle, Tabea;
Mattheus, Hannah;
Thiele, Simone;
Walter, Maggie C.;
Zemlin, Michael;
Moehler, Eva;
Dillman, Ullrich;
Abner, Sophia;
Flotats-Bastardas, Marina

Publication type:

Article

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.

Published in:

2022

By:

Pechmann, Astrid;
Behrens, Max;
Dörnbrack, Katharina;
Tassoni, Adrian;
Wenzel, Franziska;
Stein, Sabine;
Vogt, Sibylle;
Zöller, Daniela;
Bernert, Günther;
Hagenacker, Tim;
Schara-Schmidt, Ulrike;
Walter, Maggie C.;
Bertsche, Astrid;
Vill, Katharina;
Baumann, Matthias;
Baumgartner, Manuela;
Cordts, Isabell;
Eisenkölbl, Astrid;
Flotats-Bastardas, Marina;
Friese, Johannes

Publication type:

journal article

The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review.

Published in:

2022

By:

Senn, Katja C.;
Gumbert, Laura;
Thiele, Simone;
Krause, Sabine;
Walter, Maggie C.;
Nagels, Klaus H.

Publication type:

journal article

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.

Published in:

2021

By:

Attarian, Shahram;
Young, Peter;
Brannagan, Thomas H.;
Adams, David;
Van Damme, Philip;
Thomas, Florian P.;
Casanovas, Carlos;
Tard, Céline;
Walter, Maggie C.;
Péréon, Yann;
Walk, David;
Stino, Amro;
de Visser, Marianne;
Verhamme, Camiel;
Amato, Anthony;
Carter, Gregory;
Magy, Laurent;
Statland, Jeffrey M.;
Felice, Kevin

Publication type:

journal article

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2867, doi. 10.1093/brain/awae046

By:

Iruzubieta, Pablo;
Damborenea, Alberto;
Ioghen, Mihaela;
Bajew, Simon;
Fernandez-Torrón, Roberto;
Töpf, Ana;
Herrero-Reiriz, Álvaro;
Epure, Diana;
Vill, Katharina;
Hernández-Laín, Aurelio;
Manterola, María;
Azkargorta, Mikel;
Pikatza-Menoio, Oihane;
Pérez-Fernandez, Laura;
García-Puga, Mikel;
Gaina, Gisela;
Bastian, Alexandra;
Streata, Ioana;
Walter, Maggie C;
Müller-Felber, Wolfgang

Publication type:

Article

Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. e111, doi. 10.1093/brain/awad216

By:

Erdmann, Hannes;
Scharf, Florentine;
Hallermayr, Ariane;
Barseghyan, Hayk;
Walter, Maggie C;
Holinski-Feder, Elke;
Schoser, Benedikt;
Abicht, Angela

Publication type:

Article

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1388, doi. 10.1093/brain/awac336

By:

Erdmann, Hannes;
Scharf, Florentine;
Gehling, Stefanie;
Benet-Pagès, Anna;
Jakubiczka, Sibylle;
Becker, Kerstin;
Seipelt, Maria;
Kleefeld, Felix;
Knop, Karl Christian;
Prott, Eva-Christina;
Hiebeler, Miriam;
Montagnese, Federica;
Gläser, Dieter;
Vorgerd, Matthias;
Hagenacker, Tim;
Walter, Maggie C;
Reilich, Peter;
Neuhann, Teresa;
Zenker, Martin;
Holinski-Feder, Elke

Publication type:

Article

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 668, doi. 10.1093/brain/awac252

By:

Pechmann, Astrid;
Behrens, Max;
Dörnbrack, Katharina;
Tassoni, Adrian;
Stein, Sabine;
Vogt, Sibylle;
Zöller, Daniela;
Bernert, Günther;
Hagenacker, Tim;
Schara-Schmidt, Ulrike;
Schwersenz, Inge;
Walter, Maggie C;
Baumann, Matthias;
Baumgartner, Manuela;
Deschauer, Marcus;
Eisenkölbl, Astrid;
Flotats-Bastardas, Marina;
Hahn, Andreas;
Horber, Veronka;
Husain, Ralf A

Publication type:

Article

A rat model of Charcot–Marie–Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 72, doi. 10.1093/brain/awr322

By:

Fledrich, Robert;
Schlotter-Weigel, Beate;
Schnizer, Tuuli J.;
Wichert, Sven P.;
Stassart, Ruth M.;
Meyer zu Hörste, Gerd;
Klink, Axel;
Weiss, Bernhard G.;
Haag, Uwe;
Walter, Maggie C.;
Rautenstrauss, Bernd;
Paulus, Walter;
Rossner, Moritz J.;
Sereda, Michael W.

Publication type:

Article

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 171, doi. 10.1093/brain/awq294

By:

Hicks, Debbie;
Sarkozy, Anna;
Muelas, Nuria;
Köehler, Katrin;
Huebner, Angela;
Hudson, Gavin;
Chinnery, Patrick F.;
Barresi, Rita;
Eagle, Michelle;
Polvikoski, Tuomo;
Bailey, Geraldine;
Miller, James;
Radunovic, Aleksander;
Hughes, Paul J.;
Roberts, Richard;
Krause, Sabine;
Walter, Maggie C.;
Laval, Steven H.;
Straub, Volker;
Lochmüller, Hanns

Publication type:

Article

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221

By:

Horvath, Rita;
Kemp, John P.;
Tuppen, Helen A. L.;
Hudson, Gavin;
Oldfors, Anders;
Marie, Suely K. N.;
Moslemi, Ali-Reza;
Servidei, Serenella;
Holme, Elisabeth;
Shanske, Sara;
Kollberg, Gittan;
Jayakar, Parul;
Pyle, Angela;
Marks, Harold M.;
Holinski-Feder, Elke;
Scavina, Mena;
Walter, Maggie C.;
Çoku, Jorida;
Günther-Scholz, Andrea;
Smith, Paul M.

Publication type:

Article

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3250, doi. 10.1093/brain/awm271

By:

Rudolf A. Kley;
Yorck Hellenbroich;
Peter F. M. van der Ven;
Dieter O. Fürst;
Angela Huebner;
Vera Bruchertseifer;
Sören A. Peters;
Christoph M. Heyer;
Janbernd Kirschner;
Rolf Schröder;
Dirk Fischer;
Klaus Müller;
Karen Tolksdorf;
Katharina Eger;
Alfried Germing;
Turgut Brodherr;
Conny Reum;
Maggie C. Walter;
Hanns Lochmüller;
Uwe-Peter Ketelsen

Publication type:

Article

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Published in:

Brain: A Journal of Neurology, 2004, v. 127, n. 8, p. 1868

By:

Benedikt G. H. Schoser;
Wolfram Kress;
Maggie C. Walter;
Birgit Halliger-Keller;
Hanns Lochmüller;
Kenneth Ricker

Publication type:

Article

Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy.

Published in:

Scientific Reports, 2016, p. 33362, doi. 10.1038/srep33362

By:

Fröhlich, Thomas;
Kemter, Elisabeth;
Flenkenthaler, Florian;
Klymiuk, Nikolai;
Otte, Kathrin A.;
Blutke, Andreas;
Krause, Sabine;
Walter, Maggie C.;
Wanke, Rüdiger;
Wolf, Eckhard;
Arnold, Georg J.

Publication type:

Article

Disease burden of spinal muscular atrophy in Germany.

Published in:

2016

By:

Klug, Constanze;
Schreiber-Katz, Olivia;
Thiele, Simone;
Schorling, Elisabeth;
Zowe, Janet;
Reilich, Peter;
Walter, Maggie C.;
Nagels, Klaus H.

Publication type:

journal article

Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 441, doi. 10.1186/s13023-014-0210-9

By:

Schreiber-Katz, Olivia;
Klug, Constanze;
Thiele, Simone;
Schorling, Elisabeth;
Zowe, Janet;
Reilich, Peter;
Nagels, Klaus H.;
Walter, Maggie C.

Publication type:

Article

Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany.

Published in:

2014

By:

Schreiber-Katz, Olivia;
Klug, Constanze;
Thiele, Simone;
Schorling, Elisabeth;
Zowe, Janet;
Reilich, Peter;
Nagels, Klaus H;
Walter, Maggie C

Publication type:

Journal Article

miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-55

By:

Harafuji, Naoe;
Schneiderat, Peter;
Walter, Maggie C.;
Chen, Yi-Wen

Publication type:

Article

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-26

By:

Walter, Maggie C.;
Reilich, Peter;
Thiele, Simone;
Schessl, Joachim;
Schreiber, Herbert;
Reiners, Karlheinz;
Kress, Wolfram;
Müller-Reible, Clemens;
Vorgerd, Matthias;
Urban, Peter;
Schrank, Bertold;
Deschauer, Marcus;
Schlotter-Weigel, Beate;
Kohnen, Ralf;
Lochmüller, Hanns

Publication type:

Article

miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.

Published in:

2013

By:

Harafuji, Naoe;
Schneiderat, Peter;
Walter, Maggie C;
Chen, Yi-Wen

Publication type:

journal article

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.

Published in:

2013

By:

Walter, Maggie C;
Reilich, Peter;
Thiele, Simone;
Schessl, Joachim;
Schreiber, Herbert;
Reiners, Karlheinz;
Kress, Wolfram;
Müller-Reible, Clemens;
Vorgerd, Matthias;
Urban, Peter;
Schrank, Bertold;
Deschauer, Marcus;
Schlotter-Weigel, Beate;
Kohnen, Ralf;
Lochmüller, Hanns

Publication type:

journal article

Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4089, doi. 10.1093/hmg/ddp358

By:

Giacomotto, Jean;
Pertl, Cordula;
Borrel, Caroline;
Walter, Maggie C.;
Bulst, Stefanie;
Johnsen, Bob;
Baillie, David L.;
Lochmüller, Hanns;
Thirion, Christian;
Ségalat, Laurent

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Article

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1590, doi. 10.1093/hmg/ddp074

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Bulst, Stefanie;
Abicht, Angela;
Holinski-Feder, Elke;
Müller-Ziermann, Solvig;
Koehler, Udo;
Thirion, Christian;
Walter, Maggie C.;
Stewart, Joanna D.;
Chinnery, Patrick F.;
Lochmüller, Hanns;
Horvath, Rita

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Article

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 808, doi. 10.1038/ejhg.2014.191

By:

Larsen, Mirjam;
Rost, Simone;
El Hajj, Nady;
Ferbert, Andreas;
Deschauer, Marcus;
Walter, Maggie C;
Schoser, Benedikt;
Tacik, Pawel;
Kress, Wolfram;
Müller, Clemens R

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Article

Molekulare Therapien: Gegenwart und Zukunft bei neuromuskulären Erkrankungen.

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Der Nervenarzt, 2023, v. 94, n. 6, p. 473, doi. 10.1007/s00115-023-01495-3

By:

Ziegler, Andreas;
Walter, Maggie C.;
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Publication type:

Article