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Skocz do pozycji: 1 1.

Title :

Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne

Authors :

Bernert, Guenther
Hahn, Andreas
Köhler, Cornelia
Meyer, Sascha
Schara, Ulrike
Schlachter, Kurt
Trollmann, Regina
Walter, Maggie C.

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Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy

Source :

Der Nervenarzt. :1-7

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Skocz do pozycji: 2 2.

Title :

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.

Authors :

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

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Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec—AVXS-101: Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)

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Der Nervenarzt. 91(6):518-529

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Skocz do pozycji: 3 3.

Title :

Miyoshi Myopathy and Limb Girdle Muscular Dystrophy R2 are the same disease

Authors :

Moore, Ursula

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In Neuromuscular Disorders January 2020

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Skocz do pozycji: 4 4.

Title :

Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy – A patients’ perspective

Authors :

Janisch, Maria

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In Neuromuscular Disorders December 2020 30(12):975-985

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Skocz do pozycji: 5 5.

Title :

Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders

Authors :

Wenninger, Stephan
Stahl, Kristina
Wirner, Corinna
Einvag, Krisztina
Thiele, Simone
Walter, Maggie C.
Schoser, Benedikt

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In Neuromuscular Disorders August 2020 30(8):640-648

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Skocz do pozycji: 6 6.

Title :

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Authors :

Barp, AndreaAff1, Aff6
Laforet, Pascal
Bello, Luca
Tasca, Giorgio
Vissing, John
Monforte, Mauro
Ricci, Enzo
Choumert, Ariane
Stojkovic, Tanya
Malfatti, Edoardo
Pegoraro, Elena
Semplicini, Claudio
Stramare, Roberto
Scheidegger, Olivier
Haberlova, Jana
Straub, Volker
Marini-Bettolo, Chiara
Løkken, Nicoline
Diaz-Manera, Jordi
Urtizberea, Jon A.
Mercuri, Eugenio
Kynčl, Martin
Walter, Maggie C.
Carlier, Robert Y.

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Journal of Neurology. 267(1):45-56

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Skocz do pozycji: 7 7.

Title :

MYO-MRI diagnostic protocols in genetic myopathies

Authors :

Warman Chardon, Jodi

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In Neuromuscular Disorders November 2019 29(11):827-841

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Skocz do pozycji: 8 8.

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Skocz do pozycji: 9 9.

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Skocz do pozycji: 10 10.

Title :

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

Authors :

Pechmann, Astrid
König, Kirsten
Bernert, Günther
Schachtrup, Kristina
Schara, Ulrike
Schorling, David
Schwersenz, Inge
Stein, SabineAff1, Aff6
Tassoni, Adrian
Vogt, SibylleAff1, Aff6
Walter, Maggie C.
Lochmüller, HannsAff1, Aff8
Kirschner, Janbernd

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Orphanet Journal of Rare Diseases. 14(1)

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Skocz do pozycji: 11 11.

Title :

Therapieevaluation bei Patienten mit 5q-assoziierter spinaler Muskelatrophie: Erfahrungen aus der klinischen Praxis

Authors :

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

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Alternate Title :

Treatment evaluation in patients with 5q-associated spinal muscular atrophy: Real-world experience

Source :

Der Nervenarzt: Organ der Deutschen Gesellschaft für Psychiatrie, Psychotherapie und NervenheilkundeOrgan der Deutschen Gesellschaft für Neurologie. 90(4):343-351

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Skocz do pozycji: 12 12.

Title :

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Authors :

Brusa, Roberta

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In Neuromuscular Disorders June 2018 28(6):532-537

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Skocz do pozycji: 13 13.

Title :

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

Authors :

König, KirstenAff1, Aff2
Pechmann, Astrid
Thiele, Simone
Walter, Maggie C.
Schorling, David
Tassoni, Adrian
Lochmüller, HannsAff1, Aff4, Aff5, Aff6
Müller-Reible, Clemens
Kirschner, JanberndAff1, Aff8

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Orphanet Journal of Rare Diseases. 14(1)

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Skocz do pozycji: 14 14.

Title :

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

Authors :

André, Carole
Bruno, Claudio
Chabrol, Brigitte
Deconinck, Nicolas
Estournet, Brigitte
Fontaine-Carbonnel, Stephanie
Goemans, Nathalie
Gorni, Ksenija
Govoni, Alessandra
Guglieri, Michela
Lochmuller, Hanns
Magri, Francesca
Mayer, Michele
Müller-Felber, Wolfgang
Rivier, François
Roper, Helen
Schara, Ulrike
Scoto, Mariacristina
van den Berg, Leonard
Vita, Giuseppe
Walter, Maggie C
Bertini, Enrico

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In The Lancet Neurology July 2017 16(7):513-522

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Skocz do pozycji: 15 15.

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Skocz do pozycji: 16 16.

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Skocz do pozycji: 17 17.

Title :

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Authors :

Wiessner, Manuela

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In The American Journal of Human Genetics 2 March 2017 100(3):523-536

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Skocz do pozycji: 18 18.

Title :

Spinale Muskelatrophie: Zeit für das Neugeborenenscreening?

Authors :

Vill, K.
Blaschek, A.
Schara, U.
Kölbel, H.
Hohenfellner, K.
Harms, E.
Olgemöller, B.
Walter, Maggie C.
Müller-Felber, W.

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Alternate Title :

Spinal muscular atrophy: Time for newborn screening?

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Der Nervenarzt: Organ der Deutschen Gesellschaft für Psychiatrie, Psychotherapie und NervenheilkundeOrgan der Deutschen Gesellschaft für Neurologie. :1-7

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Skocz do pozycji: 19 19.

Title :

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

Authors :

Meinke, Peter

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Source :

In Neuromuscular Disorders February 2015 25(2):127-136

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Skocz do pozycji: 20 20.

Title :

Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register" des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE). (German)

Authors :

Storf, Holger
Stausberg, Jürgen
Kindle, Gerhard
Quadder, Bernd
Schlangen, Miriam
Walter, Maggie C.
Ückert, Frank
Wagner, Thomas O. F.
NAMSE-Register-Strategiegruppe
Bruns-Philipps, E.
Dietrich, M.
Schmidt, K.
Grimbacher, B.
Kienle, G.
Melin, S.
Quadder, B.
Röhrig, R.
Stausberg, J.
Storf, H.
Ückert, F.

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Alternate Title :

Patient registries for rare diseases in Germany: concept paper of the NAMSE strategy group. (English)

Source :

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz; Jun2020, Vol. 63 Issue 6, p761-770, 10p

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