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Items: 1 to 50 of 216

1.

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. 2018 Dec 15. doi: 10.1007/s00415-018-9159-2. [Epub ahead of print] No abstract available.

PMID:
30552503
2.

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. 2018 Nov 14. doi: 10.1007/s00415-018-9112-4. [Epub ahead of print]

PMID:
30430231
3.

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.

4.

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
5.

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
6.

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.

7.

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
8.

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
9.

[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. German.

PMID:
30257262
10.

[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. German.

PMID:
30248690
11.

[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. German.

PMID:
30248688
12.

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. 2018 Sep 10. doi: 10.1055/a-0672-1007. [Epub ahead of print]

PMID:
30199918
13.

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
14.

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.

15.

[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
16.

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.

17.

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
18.

[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
19.

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
20.

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
21.

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
22.

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.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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
28.

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.

PMID:
29603727
29.

222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016.

Wood L, Bassez G, van Engelen B, Lochmüller H, Schoser B; 222nd ENMC workshop participants.

Neuromuscul Disord. 2018 May;28(5):463-469. doi: 10.1016/j.nmd.2018.02.003. Epub 2018 Feb 12. No abstract available.

PMID:
29550152
30.

Polyneuropathies.

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

Dtsch Arztebl Int. 2018 Feb 9;115(6):83-90. doi: 10.3238/arztebl.2018.083.

31.

Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey.

Jiménez-Moreno AC, Raaphorst J, Babačić H, Wood L, van Engelen B, Lochmüller H, Schoser B, Wenninger S.

Neuromuscul Disord. 2018 Mar;28(3):229-235. doi: 10.1016/j.nmd.2017.12.010. Epub 2017 Dec 27.

PMID:
29361394
32.

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

Vill K, Blaschek A, Gläser D, Kuhn M, Haack T, Alhaddad B, Wagner M, Kovacs-Nagy R, Tacke M, Gerstl L, Schroeder AS, Borggraefe I, Mueller C, Schlotter-Weigel B, Schoser B, Walter MC, Müller-Felber W.

J Neuromuscul Dis. 2017;4(4):315-325. doi: 10.3233/JND-170231.

PMID:
29172004
33.

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.

Schoser B, Bilder DA, Dimmock D, Gupta D, James ES, Prasad S.

BMC Neurol. 2017 Nov 22;17(1):202. doi: 10.1186/s12883-017-0983-2. Review.

34.

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.

Montagnese F, Mondello S, Wenninger S, Kress W, Schoser B.

J Neurol. 2017 Dec;264(12):2472-2480. doi: 10.1007/s00415-017-8653-2. Epub 2017 Oct 30.

PMID:
29086017
35.

Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].

Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, Schoser B, Reilich P, Walter MC.

Neuromuscul Disord. 2017 Dec;27(12):e1. doi: 10.1016/j.nmd.2017.10.001. Epub 2017 Oct 23. No abstract available.

PMID:
29074295
36.

Erratum to: Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.

Schoser B, Eymard B, Datt J, Mantegazza R.

J Neurol. 2017 Sep;264(9):1864. doi: 10.1007/s00415-017-8556-2. No abstract available.

PMID:
28695360
37.

Editorial: a viewpoint on European standards for neuromuscular training, qualification, and certification.

Schoser B.

Curr Opin Neurol. 2017 Oct;30(5):521-522. doi: 10.1097/WCO.0000000000000482. No abstract available.

PMID:
28692528
38.

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, Schoser B, Reilich P, Walter MC.

Neuromuscul Disord. 2017 Sep;27(9):856-860. doi: 10.1016/j.nmd.2017.05.017. Epub 2017 Jun 1. Erratum in: Neuromuscul Disord. 2017 Dec;27(12 ):e1.

PMID:
28666572
39.

Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.

Schoser B, Eymard B, Datt J, Mantegazza R.

J Neurol. 2017 Sep;264(9):1854-1863. doi: 10.1007/s00415-017-8541-9. Epub 2017 Jun 12. Review. Erratum in: J Neurol. 2017 Jul 10;:.

PMID:
28608304
40.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium.

Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6. Review.

PMID:
28477382
41.

Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy.

Stenzel W, Schoser B.

Neuropediatrics. 2017 Aug;48(4):226-232. doi: 10.1055/s-0037-1601859. Epub 2017 Apr 15. Review.

PMID:
28411586
42.

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.

Schludi MH, Becker L, Garrett L, Gendron TF, Zhou Q, Schreiber F, Popper B, Dimou L, Strom TM, Winkelmann J, von Thaden A, Rentzsch K, May S, Michaelsen M, Schwenk BM, Tan J, Schoser B, Dieterich M, Petrucelli L, Hölter SM, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Klopstock T, Arzberger T, Edbauer D.

Acta Neuropathol. 2017 Aug;134(2):241-254. doi: 10.1007/s00401-017-1711-0. Epub 2017 Apr 13.

43.

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.

Schoser B, Fong E, Geberhiwot T, Hughes D, Kissel JT, Madathil SC, Orlikowski D, Polkey MI, Roberts M, Tiddens HA, Young P.

Orphanet J Rare Dis. 2017 Mar 16;12(1):52. doi: 10.1186/s13023-017-0598-0. Review.

44.

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S.

Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14.

PMID:
28279569
45.

Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.

Le Thanh P, Meinke P, Korfali N, Srsen V, Robson MI, Wehnert M, Schoser B, Sewry CA, Schirmer EC.

Neuromuscul Disord. 2017 Apr;27(4):338-351. doi: 10.1016/j.nmd.2016.12.003. Epub 2016 Dec 21.

46.

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

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.

Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.

47.

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

Montagnese F, Klupp E, Karampinos DC, Biskup S, Gläser D, Kirschke JS, Schoser B.

Muscle Nerve. 2017 Aug;56(2):334-340. doi: 10.1002/mus.25485. Epub 2017 Feb 23.

PMID:
27874200
48.

Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.

Jasnic-Savovic J, Krause S, Savic S, Kojic A, Kovcic V, Boskovic S, Nestorovic A, Rakicevic L, Schreiber-Katz O, Vogel JG, Schoser BG, Walter MC, Valle G, Radojkovic D, Faulkner G, Kojic S.

Histochem Cell Biol. 2016 Nov;146(5):569-584. Epub 2016 Jul 8.

PMID:
27393496
49.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.

Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.

50.

Diagnostic muscle biopsy: is it still needed on the way to a liquid muscle pathology?

Schoser B.

Curr Opin Neurol. 2016 Oct;29(5):602-5. doi: 10.1097/WCO.0000000000000366. No abstract available.

PMID:
27427991

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