Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 179

1.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Laforêt P, Inoue M, Goillot E, Lefeuvre C, Cagin U, Streichenberger N, Leonard-Louis S, Brochier G, Madelaine A, Labasse C, Hedberg-Oldfors C, Krag T, Jauze L, Fabregue J, Labrune P, Milisenda J, Nadaj-Pakleza A, Sacconi S, Mingozzi F, Ronzitti G, Petit F, Schoser B, Oldfors A, Vissing J, Romero NB, Nishino I, Malfatti E.

Acta Neuropathol Commun. 2019 Oct 28;7(1):167. doi: 10.1186/s40478-019-0815-2.

2.

A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients.

Montagnese F, Stahl K, Wenninger S, Schoser B.

J Neurol. 2019 Oct 26. doi: 10.1007/s00415-019-09593-6. [Epub ahead of print]

PMID:
31655890
3.

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study.

Walter MC, Wenninger S, Thiele S, Stauber J, Hiebeler M, Greckl E, Stahl K, Pechmann A, Lochmüller H, Kirschner J, Schoser B.

J Neuromuscul Dis. 2019;6(4):453-465. doi: 10.3233/JND-190416.

PMID:
31594243
4.

Consensus-based care recommendations for adults with myotonic dystrophy type 2.

Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, Hilbert J, Kornblum C, Kostera-Pruszczyk A, Krahe R, Lusakowska A, Meola G, Moxley R 3rd, Thornton C, Udd B, Formaker P; Myotonic Dystrophy Foundation.

Neurol Clin Pract. 2019 Aug;9(4):343-353. doi: 10.1212/CPJ.0000000000000645. Review.

5.

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.

Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A.

Neuropathol Appl Neurobiol. 2019 Sep 23. doi: 10.1111/nan.12580. [Epub ahead of print]

PMID:
31545528
6.

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Díaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H.

Orphanet J Rare Dis. 2019 Aug 15;14(1):199. doi: 10.1186/s13023-019-1157-7.

7.

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.

Cumming SA, Jimenez-Moreno C, Okkersen K, Wenninger S, Daidj F, Hogarth F, Littleford R, Gorman G, Bassez G, Schoser B, Lochmüller H, van Engelen BGM, Monckton DG; OPTIMISTIC Consortium.

Neurology. 2019 Sep 3;93(10):e995-e1009. doi: 10.1212/WNL.0000000000008056. Epub 2019 Aug 8.

8.

Pompe disease: what are we missing?

Schoser B.

Ann Transl Med. 2019 Jul;7(13):292. doi: 10.21037/atm.2019.05.29. Review.

9.

Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease.

Meinke P, Limmer S, Hintze S, Schoser B.

Ann Transl Med. 2019 Jul;7(13):277. doi: 10.21037/atm.2019.04.18.

10.

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H.

Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0.

11.

Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease.

Godefroy A, Daurat M, Da Silva A, Basile I, El Cheikh K, Caillaud C, Sacconi S, Schoser B, Charbonné HV, Gary-Bobo M, Morère A, Garcia M, Maynadier M.

J Cell Mol Med. 2019 Sep;23(9):6499-6503. doi: 10.1111/jcmm.14516. Epub 2019 Jul 10.

12.

Decreased water T2 in fatty infiltrated skeletal muscles of patients with neuromuscular diseases.

Schlaeger S, Weidlich D, Klupp E, Montagnese F, Deschauer M, Schoser B, Bublitz S, Ruschke S, Zimmer C, Rummeny EJ, Kirschke JS, Karampinos DC.

NMR Biomed. 2019 Aug;32(8):e4111. doi: 10.1002/nbm.4111. Epub 2019 Jun 10.

PMID:
31180167
13.

Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.

Hundsberger T, Schoser B, Leupold D, Rösler KM, Putora PM.

J Neurol. 2019 Aug;266(8):2010-2017. doi: 10.1007/s00415-019-09373-2. Epub 2019 May 18.

PMID:
31104135
14.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA.

Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16.

PMID:
31092906
15.

A Systematic Review of the Health Economics of Pompe Disease.

Schoser B, Hahn A, James E, Gupta D, Gitlin M, Prasad S.

Pharmacoecon Open. 2019 Dec;3(4):479-493. doi: 10.1007/s41669-019-0142-3. Review.

16.

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.

Ikenberg E, Reilich P, Abicht A, Heller C, Schoser B, Walter MC.

Neuromuscul Disord. 2019 May;29(5):392-397. doi: 10.1016/j.nmd.2019.02.007. Epub 2019 Feb 20.

PMID:
30992180
17.

A genetic modifier of symptom onset in Pompe disease.

Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP.

EBioMedicine. 2019 May;43:553-561. doi: 10.1016/j.ebiom.2019.03.048. Epub 2019 Mar 25.

18.

Evaluating the diagnostic utility of new line immunoassays for myositis antibodies in clinical practice: a retrospective study.

Montagnese F, Babačić H, Eichhorn P, Schoser B.

J Neurol. 2019 Jun;266(6):1358-1366. doi: 10.1007/s00415-019-09266-4. Epub 2019 Mar 6.

PMID:
30840145
19.

CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review.

Babačić H, Mehta A, Merkel O, Schoser B.

PLoS One. 2019 Feb 22;14(2):e0212198. doi: 10.1371/journal.pone.0212198. eCollection 2019.

20.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group.

Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17.

Supplemental Content

Loading ...
Support Center