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Best matches for Lochmüller H[au]:

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. Austin CP et al. Clin Transl Sci. (2018)

Duchenne muscular dystrophy and caregiver burden: a systematic review. Landfeldt E et al. Dev Med Child Neurol. (2018)

The Human Phenotype Ontology in 2017. Köhler S et al. Nucleic Acids Res. (2017)

Search results

Items: 1 to 50 of 537

1.

An improved method for culturing myotubes on laminins for the robust clustering of postsynaptic machinery.

Pęziński M, Daszczuk P, Pradhan BS, Lochmüller H, Prószyński TJ.

Sci Rep. 2020 Mar 11;10(1):4524. doi: 10.1038/s41598-020-61347-x.

2.

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.

Landfeldt E, Thompson R, Sejersen T, McMillan HJ, Kirschner J, Lochmüller H.

Eur J Epidemiol. 2020 Feb 27. doi: 10.1007/s10654-020-00613-8. [Epub ahead of print] Review.

PMID:
32107739
3.

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.

Yaramis A, Lochmüller H, Töpf A, Sonmezler E, Yilmaz E, Hiz S, Yis U, Gungor S, Ipek Polat A, Edem P, Beltran S, Laurie S, Yaramis A, Horvath R, Oktay Y.

Neurol Genet. 2020 Jan 10;6(1):e392. doi: 10.1212/NXG.0000000000000392. eCollection 2020 Feb.

4.

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.

Savarese M, Johari M, Johnson K, Arumilli M, Torella A, Töpf A, Rubegni A, Kuhn M, Giugliano T, Gläser D, Fattori F, Thompson R, Penttilä S, Lehtinen S, Gibertini S, Ruggieri A, Mora M, Maver A, Peterlin B, Mankodi A, Lochmüller H, Santorelli FM, Schoser B, Fajkusová L, Straub V, Nigro V, Hackman P, Udd B.

J Neuromuscul Dis. 2020;7(2):153-166. doi: 10.3233/JND-190423.

PMID:
32039858
5.

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.

Nilipour Y, Fatehi F, Sanatinia S, Bradshaw A, Duff J, Lochmüller H, Horvath R, Nafissi S.

J Neurol Sci. 2020 Apr 15;411:116707. doi: 10.1016/j.jns.2020.116707. Epub 2020 Jan 23.

PMID:
32007756
6.

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients.

Capitanio D, Moriggi M, Torretta E, Barbacini P, De Palma S, Viganò A, Lochmüller H, Muntoni F, Ferlini A, Mora M, Gelfi C.

J Cachexia Sarcopenia Muscle. 2020 Jan 28. doi: 10.1002/jcsm.12527. [Epub ahead of print]

7.

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators, Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A.

Eur J Hum Genet. 2020 Jan 2. doi: 10.1038/s41431-019-0563-6. [Epub ahead of print]

PMID:
31896777
8.

Activities of daily living in myotonic dystrophy type 1.

Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Faber CG, Merkies ISJ, Gorman G, Turner C, Lochmüller H.

Acta Neurol Scand. 2019 Dec 30. doi: 10.1111/ane.13215. [Epub ahead of print]

PMID:
31889295
9.

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.

Signorelli M, Ayoglu B, Johansson C, Lochmüller H, Straub V, Muntoni F, Niks E, Tsonaka R, Persson A, Aartsma-Rus A, Nilsson P, Al-Khalili Szigyarto C, Spitali P.

J Cachexia Sarcopenia Muscle. 2019 Dec 27. doi: 10.1002/jcsm.12517. [Epub ahead of print]

10.

A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review.

Devereux L, Watson PH, Mes-Masson AM, Luna-Crespo F, Thomas G, Pitman H, Speirs V, Hall AG, Bollinger N, Posada M, Lochmüller H, Thorne H, Eng CB, Riegman PHJ, Ng W, Parry-Jones A.

Biopreserv Biobank. 2019 Dec;17(6):512-519. doi: 10.1089/bio.2019.29060.djc.SI. Epub 2019 Dec 2. No abstract available.

PMID:
31794678
11.

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.

Pechmann A, Eckenweiler M, Schorling D, Stavropoulou D, Lochmüller H, Kirschner J.

Neuromuscul Disord. 2019 Nov;29(11):907-909. doi: 10.1016/j.nmd.2019.09.001. Epub 2019 Sep 13.

PMID:
31732390
12.

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.

Higgs C, Hilbert JE, Wood L, Martens WB, Marini-Bettolo C, Nikolenko N, Alsaggaf R, Lochmüller H, Moxley RT, Greene MH, Wang Y, Gadalla SM.

Front Neurol. 2019 Oct 11;10:1071. doi: 10.3389/fneur.2019.01071. eCollection 2019.

13.

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.

14.

Severe neurodevelopmental disease caused by a homozygous TLK2 variant.

Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R.

Eur J Hum Genet. 2020 Mar;28(3):383-387. doi: 10.1038/s41431-019-0519-x.

PMID:
31558842
15.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Nalini A, Lochmüller H.

Eur J Hum Genet. 2020 Mar;28(3):373-377. doi: 10.1038/s41431-019-0506-2. Epub 2019 Sep 16.

16.

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.

17.

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.

18.

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. Erratum in: Neurology. 2020 Mar 10;94(10):459.

19.

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.

20.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13.

21.

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.

22.

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 Oct;40(10):1797-1812. doi: 10.1002/humu.23792. Epub 2019 Jun 23.

PMID:
31231902
23.

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.

24.

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.

25.

"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.

26.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D.

Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107.

27.

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.

28.

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2019 Sep;21(9):2163-2164. doi: 10.1038/s41436-019-0506-1.

PMID:
31028354
29.

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.

30.

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
31.

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
32.

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. Review. No abstract available.

33.

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.

34.

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
35.

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
36.

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.

37.

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.

38.

Disease burden of myotonic dystrophy type 1.

Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Gorman G, Turner C, Lochmüller H.

J Neurol. 2019 Apr;266(4):998-1006. doi: 10.1007/s00415-019-09228-w. Epub 2019 Feb 20.

39.

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

Dusl M, Moreno T, Munell F, Macaya A, Gratacòs M, Abicht A, Strom TM, Lochmüller H, Senderek J.

J Neurol. 2019 May;266(5):1107-1112. doi: 10.1007/s00415-019-09239-7. Epub 2019 Feb 14.

PMID:
30767057
40.

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018.

Lochmüller H, Ambrosini A, van Engelen B, Hansson M, Tibben A, Breukel A, Sterrenburg E, Schrijvers G, Meijer I, Padberg G, Peay H, Monaco L, Snape M, Lennox A, Mazzone E, Bere N, de Lemus M, Landfeldt E, Willmann R; 235th ENMC workshop study group.

J Neuromuscul Dis. 2019;6(1):161-172. doi: 10.3233/JND-180368.

PMID:
30714970
41.

Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.

Landfeldt E, Edström J, Jimenez-Moreno C, van Engelen BGM, Kirschner J, Lochmüller H.

Patient. 2019 Aug;12(4):365-373. doi: 10.1007/s40271-019-00357-y.

42.

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.

Pechmann A, König K, Bernert G, Schachtrup K, Schara U, Schorling D, Schwersenz I, Stein S, Tassoni A, Vogt S, Walter MC, Lochmüller H, Kirschner J.

Orphanet J Rare Dis. 2019 Jan 21;14(1):18. doi: 10.1186/s13023-019-0998-4.

43.

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, Decostre V, Mendez JB, Sánchez-Aguilera Praxedes N, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prügel J, Maron E, 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, Díaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

Neurology. 2019 Jan 9. pii: 10.1212/WNL.0000000000006858. doi: 10.1212/WNL.0000000000006858. [Epub ahead of print]

44.

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Cipriani S, Phan V, Médard JJ, Horvath R, Lochmüller H, Chrast R, Roos A, Spendiff S.

Int J Mol Sci. 2018 Dec 17;19(12). pii: E4072. doi: 10.3390/ijms19124072.

45.

The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy.

Kletzl H, Marquet A, Günther A, Tang W, Heuberger J, Groeneveld GJ, Birkhoff W, Mercuri E, Lochmüller H, Wood C, Fischer D, Gerlach I, Heinig K, Bugawan T, Dziadek S, Kinch R, Czech C, Khwaja O.

Neuromuscul Disord. 2019 Jan;29(1):21-29. doi: 10.1016/j.nmd.2018.10.001. Epub 2018 Oct 30.

PMID:
30553700
46.

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Thompson R, Abicht A, Beeson D, Engel AG, Eymard B, Maxime E, Lochmüller H.

Orphanet J Rare Dis. 2018 Nov 26;13(1):211. doi: 10.1186/s13023-018-0955-7.

47.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN.

Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.

48.

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.

Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A.

Neurobiol Dis. 2019 Apr;124:218-229. doi: 10.1016/j.nbd.2018.11.019. Epub 2018 Nov 20.

PMID:
30468864
49.

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

Estephan EP, Zambon AA, Marchiori PE, da Silva AMS, Caldas VM, Moreno CAM, Reed UC, Horvath R, Töpf A, Lochmüller H, Zanoteli E.

Neuromuscul Disord. 2018 Nov;28(11):961-964. doi: 10.1016/j.nmd.2018.08.007. Epub 2018 Sep 5.

PMID:
30266223
50.

Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD.

Coenen-Stass AML, Sork H, Gatto S, Godfrey C, Bhomra A, Krjutškov K, Hart JR, Westholm JO, O'Donovan L, Roos A, Lochmüller H, Puri PL, El Andaloussi S, Wood MJA, Roberts TC.

Mol Ther Nucleic Acids. 2018 Dec 7;13:1-15. doi: 10.1016/j.omtn.2018.08.005. Epub 2018 Aug 17.

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