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Items: 1 to 20 of 365

1.

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.

2.

Analysis of the functional capacity outcome measures for myotonic dystrophy.

Jimenez-Moreno AC, Nikolenko N, Kierkegaard M, Blain AP, Newman J, Massey C, Moat D, Sodhi J, Atalaia A, Gorman GS, Turner C, Lochmüller H.

Ann Clin Transl Neurol. 2019 Aug;6(8):1487-1497. doi: 10.1002/acn3.50845. Epub 2019 Jul 22.

3.

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.

PMID:
31395669
4.

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.

O'Connor E, Cairns G, Spendiff S, Burns D, Hettwer S, Mäder A, Müller J, Horvath R, Slater C, Roos A, Lochmüller H.

Cells. 2019 Aug 7;8(8). pii: E848. doi: 10.3390/cells8080848.

5.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Nadja M, Angela P, Denisa H, Charlotte L A, Nicolai K, Gina O, Leigh W, Frances E, Sandra B T C, Christian T, Jennifer D, Ana T, Delia Y, Cristina J, Andrés N, Carlos O, Angels GC, Claudia G, Maria O, Saikat S, Maryanne A P, Michael C, Sergei K, Efsthatia C, Majumdar A, Germaine P, Daniel M, Kyle T, Placido N, Antonia R, Frederic T, Agatha S, Aurora P, Raquel M, Georgia S, Hanns L, Cecilia JM, Robert W T, Rafael A, Janbernd K, Sarah C G, Andreas R, Rita H.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]

PMID:
31339582
6.

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

König K, Pechmann A, Thiele S, Walter MC, Schorling D, Tassoni A, Lochmüller H, Müller-Reible C, Kirschner J.

Orphanet J Rare Dis. 2019 Jun 24;14(1):152. doi: 10.1186/s13023-019-1125-2.

7.

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.

Thompson R, Papakonstantinou Ntalis A, Beltran S, Töpf A, de Paula Estephan E, Polavarapu K, 't Hoen PAC, Missier P, Lochmüller H.

Hum Mutat. 2019 Jun 23. doi: 10.1002/humu.23792. [Epub ahead of print]

PMID:
31231902
8.

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

Yiş U, Hiz S, Güneş S, Diniz G, Baydan F, Töpf A, Sonmezler E, Lochmüller H, Horvath R, Oktay Y.

J Neuromuscul Dis. 2019;6(3):377-384. doi: 10.3233/JND-190383.

9.

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.

McMacken GM, Spendiff S, Whittaker RG, O'Connor E, Howarth RM, Boczonadi V, Horvath R, Slater CR, Lochmüller H.

Hum Mol Genet. 2019 Jul 15;28(14):2339-2351. doi: 10.1093/hmg/ddz059.

10.

"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.

Ambrosini A, Quinlivan R, Sansone VA, Meijer I, Schrijvers G, Tibben A, Padberg G, de Wit M, Sterrenburg E, Mejat A, Breukel A, Rataj M, Lochmüller H, Willmann R; 235th ENMC workshop study group.

Orphanet J Rare Dis. 2019 Jun 7;14(1):126. doi: 10.1186/s13023-019-1103-8.

11.

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.

Lochmüller H, Behin A, Caraco Y, Lau H, Mirabella M, Tournev I, Tarnopolsky M, Pogoryelova O, Woods C, Lai A, Shah J, Koutsoukos T, Skrinar A, Mansbach H, Kakkis E, Mozaffar T.

Neurology. 2019 Apr 30;92(18):e2109-e2117. doi: 10.1212/WNL.0000000000006932. Epub 2019 Jan 25.

12.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH Jr.

Ann Clin Transl Neurol. 2019 Mar 3;6(4):642-654. doi: 10.1002/acn3.738. eCollection 2019 Apr.

13.

Quality of life of patients with spinal muscular atrophy: A systematic review.

Landfeldt E, Edström J, Sejersen T, Tulinius M, Lochmüller H, Kirschner J.

Eur J Paediatr Neurol. 2019 May;23(3):347-356. doi: 10.1016/j.ejpn.2019.03.004. Epub 2019 Mar 21.

PMID:
30962132
14.

237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018.

Pogoryelova O, Urtizberea JA, Argov Z, Nishino I, Lochmüller H; ENMC workshop study group.

Neuromuscul Disord. 2019 May;29(5):401-410. doi: 10.1016/j.nmd.2019.02.010. Epub 2019 Mar 2. No abstract available.

PMID:
30956020
15.

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy.

Landfeldt E, Lochmüller H, Lindgren P.

Orphanet J Rare Dis. 2019 Apr 2;14(1):75. doi: 10.1186/s13023-018-0975-3. No abstract available.

16.

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.

Thompson R, Bonne G, Missier P, Lochmüller H.

Emerg Top Life Sci. 2019 Mar;3(1):19-37. doi: 10.1042/ETLS20180100. Epub 2019 Jan 28.

17.

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy.

Ricci G, Cammish P, Siciliano G, Tupler R, Lochmuller H, Evangelista T.

Muscle Nerve. 2019 Jun;59(6):711-713. doi: 10.1002/mus.26474. Epub 2019 Apr 4.

PMID:
30895627
18.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A.

Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14.

PMID:
30868735
19.

GNE genotype explains 20% of phenotypic variability in GNE myopathy.

Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H.

Neurol Genet. 2019 Feb 1;5(1):e308. doi: 10.1212/NXG.0000000000000308. eCollection 2019 Feb.

20.

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses.

Oury J, Liu Y, Töpf A, Todorovic S, Hoedt E, Preethish-Kumar V, Neubert TA, Lin W, Lochmüller H, Burden SJ.

J Cell Biol. 2019 May 6;218(5):1686-1705. doi: 10.1083/jcb.201810023. Epub 2019 Mar 6.

PMID:
30842214

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