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Items: 1 to 50 of 238

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.

21.

A systematic review on the definition of rhabdomyolysis.

Stahl K, Rastelli E, Schoser B.

J Neurol. 2019 Jan 7. doi: 10.1007/s00415-019-09185-4. [Epub ahead of print] Review.

PMID:
30617905
22.

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S.

Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Review.

23.

Cannabis use in myotonic dystrophy patients in Germany and USA: a pilot survey.

Montagnese F, White M, Klein A, Stahl K, Wenninger S, Schoser B.

J Neurol. 2019 Feb;266(2):530-532. doi: 10.1007/s00415-018-9159-2. Epub 2018 Dec 15. No abstract available.

PMID:
30552503
24.

Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study.

Wenninger S, Greckl E, Babačić H, Stahl K, Schoser B.

J Neurol. 2019 Jan;266(1):133-147. doi: 10.1007/s00415-018-9112-4. Epub 2018 Nov 14.

PMID:
30430231
25.

Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1.

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

Front Physiol. 2018 Oct 30;9:1532. doi: 10.3389/fphys.2018.01532. eCollection 2018.

26.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.

EMBO J. 2018 Dec 3;37(23). pii: e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.

PMID:
30420557
27.

Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis.

Baumann M, Gumpold C, Mueller-Felber W, Schoser B, Haberler C, Loescher WN, Rostásy K, Fischer MB, Wanschitz JV.

Neuromuscul Disord. 2018 Dec;28(12):973-985. doi: 10.1016/j.nmd.2018.09.002. Epub 2018 Sep 19.

PMID:
30389421
28.

Editorial: Beyond Borders: Myotonic Dystrophies-A European Perception.

Schoser B, Meola G.

Front Neurol. 2018 Sep 20;9:787. doi: 10.3389/fneur.2018.00787. eCollection 2018. No abstract available.

29.

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.

Schatz UA, Weiss S, Wenninger S, Schoser B, Muss WH, Bittner RE, Schmidt WM, Schossig AS, Rudnik-Schöneborn S, Baumann M.

Neurology. 2018 Oct 30;91(18):e1690-e1694. doi: 10.1212/WNL.0000000000006428. Epub 2018 Oct 5.

PMID:
30291184
30.

How to Interpret Abnormal Findings of Spirometry and Manometry in Myotonic Dystrophies?

Babačić H, Goldina O, Stahl K, Montagnese F, Jurinović V, Schoser B, Wenninger S.

J Neuromuscul Dis. 2018;5(4):451-459. doi: 10.3233/JND-180331.

PMID:
30282374
31.

[Anti-IgLON5 syndrome - what is our current understanding?]

Wenninger S, Schoser B.

Fortschr Neurol Psychiatr. 2018 Sep;86(9):559-565. doi: 10.1055/a-0665-4593. Epub 2018 Sep 26. Review. German. Erratum in: Fortschr Neurol Psychiatr. 2018 Sep;86(9):E1.

PMID:
30257262
32.

[Dystrophic and non-dystrophic myotonias].

Montagnese F, Schoser B.

Fortschr Neurol Psychiatr. 2018 Sep;86(9):575-583. doi: 10.1055/a-0635-8285. Epub 2018 Sep 24. Review. German.

PMID:
30248690
33.

[Myasthenia gravis: current status of antibody diagnostics and aspects on refractory myasthenia gravis].

Wenninger S, Schoser B.

Fortschr Neurol Psychiatr. 2018 Sep;86(9):551-558. doi: 10.1055/a-0624-9397. Epub 2018 Sep 24. Review. German.

PMID:
30248688
34.

Sarcopenia - Endocrinological and Neurological Aspects.

Stangl MK, Böcker W, Chubanov V, Ferrari U, Fischereder M, Gudermann T, Hesse E, Meinke P, Reincke M, Reisch N, Saller MM, Seissler J, Schmidmaier R, Schoser B, Then C, Thorand B, Drey M.

Exp Clin Endocrinol Diabetes. 2019 Jan;127(1):8-22. doi: 10.1055/a-0672-1007. Epub 2018 Sep 10. Review.

PMID:
30199918
35.

Self-diagnosis of a triple trouble.

Schoser B.

Neuromuscul Disord. 2018 Oct;28(10):825-827. doi: 10.1016/j.nmd.2018.07.014. Epub 2018 Aug 9. No abstract available.

PMID:
30194026
36.

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, Manera JAD, 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. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Erratum in: Orphanet J Rare Dis. 2019 Aug 15;14(1):199.

37.

[Innovative therapeutic approaches for hereditary neuromuscular diseases].

Kirschner J, Schoser B.

Nervenarzt. 2018 Oct;89(10):1115-1122. doi: 10.1007/s00115-018-0599-9. Review. German.

PMID:
30171303
38.

Myotonic Dystrophy-A Progeroid Disease?

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

Front Neurol. 2018 Jul 25;9:601. doi: 10.3389/fneur.2018.00601. eCollection 2018.

39.

Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review.

Rastelli E, Montagnese F, Massa R, Schoser B.

Curr Opin Neurol. 2018 Oct;31(5):599-609. doi: 10.1097/WCO.0000000000000591.

PMID:
30048337
40.

[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].

Mengel D, Librizzi D, Schoser B, Gläser D, Clemen CS, Dodel R, Schröder R.

Fortschr Neurol Psychiatr. 2018 Jul;86(7):434-438. doi: 10.1055/s-0044-101033. Epub 2018 Jul 20. German.

PMID:
30029282
41.

Diagnostics and treatment of neuromusuclar disorders - a role model for rare diseases?

Schoser B.

Curr Opin Neurol. 2018 Oct;31(5):565-567. doi: 10.1097/WCO.0000000000000588. No abstract available.

PMID:
30015673
42.

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I.

Neuromuscul Disord. 2018 Aug;28(8):625-632. doi: 10.1016/j.nmd.2018.05.005. Epub 2018 May 17.

PMID:
29935994
43.

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.

Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium.

Lancet Neurol. 2018 Aug;17(8):671-680. doi: 10.1016/S1474-4422(18)30203-5. Epub 2018 Jun 19.

PMID:
29934199
44.

Thigh muscle segmentation of chemical shift encoding-based water-fat magnetic resonance images: The reference database MyoSegmenTUM.

Schlaeger S, Freitag F, Klupp E, Dieckmeyer M, Weidlich D, Inhuber S, Deschauer M, Schoser B, Bublitz S, Montagnese F, Zimmer C, Rummeny EJ, Karampinos DC, Kirschke JS, Baum T.

PLoS One. 2018 Jun 7;13(6):e0198200. doi: 10.1371/journal.pone.0198200. eCollection 2018.

45.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.

Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

46.

In Reply.

Schoser B, Sommer C, Geber C, Forst R, Young P, Birklein F.

Dtsch Arztebl Int. 2018 Apr 27;115(17):297. doi: 10.3238/arztebl.2018.0297. No abstract available.

47.

Core Clinical Phenotypes in Myotonic Dystrophies.

Wenninger S, Montagnese F, Schoser B.

Front Neurol. 2018 May 2;9:303. doi: 10.3389/fneur.2018.00303. eCollection 2018. Review.

48.

A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations.

Keßler M, Kieltsch A, Kayvanpour E, Katus HA, Schoser B, Schessl J, Just S, Rottbauer W.

Neuromuscul Disord. 2018 Jun;28(6):521-531. doi: 10.1016/j.nmd.2018.03.001. Epub 2018 Mar 15.

49.

T2-Weighted Dixon Turbo Spin Echo for Accelerated Simultaneous Grading of Whole-Body Skeletal Muscle Fat Infiltration and Edema in Patients With Neuromuscular Diseases.

Schlaeger S, Klupp E, Weidlich D, Cervantes B, Foreman SC, Deschauer M, Schoser B, Katemann C, Kooijman H, Rummeny EJ, Zimmer C, Kirschke JS, Karampinos DC.

J Comput Assist Tomogr. 2018 Jul/Aug;42(4):574-579. doi: 10.1097/RCT.0000000000000723.

PMID:
29613984
50.

Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain.

Schoser B.

Dev Med Child Neurol. 2018 Jun;60(6):536. doi: 10.1111/dmcn.13762. Epub 2018 Mar 30. No abstract available.

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