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Items: 1 to 20 of 140

1.

[Spinal muscular atrophy - clinical spectrum and therapy].

Walter MC, Stauber AJ.

Fortschr Neurol Psychiatr. 2018 Sep;86(9):543-550. doi: 10.1055/a-0621-9139. Epub 2018 Sep 24. German.

PMID:
30248687
2.

[Molecular therapies in muscular dystrophies].

Walter MC, Reilich P.

Fortschr Neurol Psychiatr. 2018 Sep;86(9):535-542. doi: 10.1055/a-0624-9513. Epub 2018 Sep 24. German.

PMID:
30248686
3.

The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.

Papadimas GK, Paraskevas GP, Zambelis T, Karagiaouris C, Bourbouli M, Bougea A, Walter MC, Schumacher NU, Krause S, Kapaki E.

Acta Myol. 2017 Dec 1;36(4):203-206. eCollection 2017 Dec.

4.

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

Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP.

Neuromuscul Disord. 2018 Jun;28(6):532-537. doi: 10.1016/j.nmd.2018.04.006. Epub 2018 Apr 13.

PMID:
29759638
5.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.

6.

Author Correction: Genome expansion and lineage-specific genetic innovations in the forest pathogenic fungi Armillaria.

Sipos G, Prasanna AN, Walter MC, O'Connor E, Bálint B, Krizsán K, Kiss B, Hess J, Varga T, Slot J, Riley R, Bóka B, Rigling D, Barry K, Lee J, Mihaltcheva S, LaButti K, Lipzen A, Waldron R, Moloney NM, Sperisen C, Kredics L, Vágvölgyi C, Patrignani A, Fitzpatrick D, Nagy I, Doyle S, Anderson JB, Grigoriev IV, Güldener U, Münsterkötter M, Nagy LG.

Nat Ecol Evol. 2018 Mar;2(3):577. doi: 10.1038/s41559-018-0469-7.

PMID:
29426895
7.

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226. doi: 10.1136/jnnp-2017-317329. Epub 2018 Jan 29. No abstract available.

8.

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
9.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

10.

[Spinal muscular atrophy : Time for newborn screening?]

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

Nervenarzt. 2017 Dec;88(12):1358-1366. doi: 10.1007/s00115-017-0447-3. Review. German.

PMID:
29101527
11.

Genome expansion and lineage-specific genetic innovations in the forest pathogenic fungi Armillaria.

Sipos G, Prasanna AN, Walter MC, O'Connor E, Bálint B, Krizsán K, Kiss B, Hess J, Varga T, Slot J, Riley R, Bóka B, Rigling D, Barry K, Lee J, Mihaltcheva S, LaButti K, Lipzen A, Waldron R, Moloney NM, Sperisen C, Kredics L, Vágvölgyi C, Patrignani A, Fitzpatrick D, Nagy I, Doyle S, Anderson JB, Grigoriev IV, Güldener U, Münsterkötter M, Nagy LG.

Nat Ecol Evol. 2017 Dec;1(12):1931-1941. doi: 10.1038/s41559-017-0347-8. Epub 2017 Oct 30. Erratum in: Nat Ecol Evol. 2018 Feb 9;:.

12.

Recent developments in Duchenne muscular dystrophy: facts and numbers.

Walter MC, Reilich P.

J Cachexia Sarcopenia Muscle. 2017 Oct;8(5):681-685. doi: 10.1002/jcsm.12245. No abstract available.

13.

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
14.

Genome Sequence of Bacillus safensis Strain Ingolstadt Isolated from the Pectoralis Pouch of a Patient with Defibrillator-Related Surgery.

Dematheis F, Antwerpen MH, Grass G, Walter MC, Borgmann S.

Genome Announc. 2017 Sep 21;5(38). pii: e01031-17. doi: 10.1128/genomeA.01031-17.

15.

Complete Circular Genome Sequence and Temperature Independent Adaptation to Anaerobiosis of Listeria weihenstephanensis DSM 24698.

Ferrari E, Walter MC, Huptas C, Scherer S, Müller-Herbst S.

Front Microbiol. 2017 Sep 1;8:1672. doi: 10.3389/fmicb.2017.01672. eCollection 2017.

16.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
17.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW.

J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31.

PMID:
28860329
18.

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
19.

[Risk genes in myopathies and mitochondrial diseases].

Stendel C, Walter MC, Klopstock T.

Nervenarzt. 2017 Jul;88(7):736-743. doi: 10.1007/s00115-017-0350-y. Review. German.

PMID:
28573363
20.

Whole genome sequencing of Brucella melitensis isolated from 57 patients in Germany reveals high diversity in strains from Middle East.

Georgi E, Walter MC, Pfalzgraf MT, Northoff BH, Holdt LM, Scholz HC, Zoeller L, Zange S, Antwerpen MH.

PLoS One. 2017 Apr 7;12(4):e0175425. doi: 10.1371/journal.pone.0175425. eCollection 2017.

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