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Best matches for Lochmüller H[au]:

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

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

Genetic heterogeneity of motor neuropathies. Bansagi B et al. Neurology. (2017)

Search results

Items: 1 to 50 of 522

1.

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, Atchayaram N, Lochmüller H.

Eur J Hum Genet. 2019 Sep 16. doi: 10.1038/s41431-019-0506-2. [Epub ahead of print]

PMID:
31527857
2.

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.

3.

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.

4.

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
5.

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.

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.

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.

PMID:
31081514
12.

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.

13.

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
14.

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.

15.

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
16.

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
17.

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.

18.

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.

19.

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
20.

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
21.

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.

22.

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
23.

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.

24.

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
25.

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
26.

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. Review.

27.

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.

28.

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]

29.

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.

30.

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
31.

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.

32.

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.

33.

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
34.

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
35.

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.

36.

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.

Alrohaif H, Pogoryelova O, Al-Ajmi A, Aljeryan LA, Alrashidi NH, Alefasi SA, Urtizberea A, Lochmüller H, Bastaki L.

Muscle Nerve. 2018 Nov;58(5):700-707. doi: 10.1002/mus.26337. Epub 2018 Oct 3.

PMID:
30192030
37.

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.

38.

Biochemical and pathological changes result from mutated Caveolin-3 in muscle.

González Coraspe JA, Weis J, Anderson ME, Münchberg U, Lorenz K, Buchkremer S, Carr S, Zahedi RP, Brauers E, Michels H, Sunada Y, Lochmüller H, Campbell KP, Freier E, Hathazi D, Roos A.

Skelet Muscle. 2018 Aug 28;8(1):28. doi: 10.1186/s13395-018-0173-y.

39.

Recommendations for Improving the Quality of Rare Disease Registries.

Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D.

Int J Environ Res Public Health. 2018 Aug 3;15(8). pii: E1644. doi: 10.3390/ijerph15081644.

40.

Privacy-Preserving Linkage of Genomic and Clinical Data Sets.

Baker DB, Knoppers BM, Phillips M, van Enckevort D, Kaufmann P, Lochmuller H, Taruscio D.

IEEE/ACM Trans Comput Biol Bioinform. 2019 Jul-Aug;16(4):1342-1348. doi: 10.1109/TCBB.2018.2855125. Epub 2018 Jul 30.

PMID:
30059313
41.

Survival patterns and cancer determinants in families with myotonic dystrophy type 1.

Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmüller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM.

Eur J Neurol. 2019 Jan;26(1):58-65. doi: 10.1111/ene.13763. Epub 2018 Sep 16.

PMID:
30051542
42.

Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy.

Jimenez-Moreno AC, Charman SJ, Nikolenko N, Larweh M, Turner C, Gorman G, Lochmüller H, Catt M.

Disabil Rehabil. 2018 Jul 10:1-7. doi: 10.1080/09638288.2018.1482376. [Epub ahead of print]

PMID:
29987963
43.

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
44.

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
45.

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H.

Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225.

46.

Duchenne muscular dystrophy and caregiver burden: a systematic review.

Landfeldt E, Edström J, Buccella F, Kirschner J, Lochmüller H.

Dev Med Child Neurol. 2018 Oct;60(10):987-996. doi: 10.1111/dmcn.13934. Epub 2018 Jun 14. Review.

PMID:
29904912
47.

Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients.

Lochmüller H, Evans D, Farwell W, Finkel R, Goemans N, de Lemus M, Matyushenko V, Muntoni F, Ouillade MC, Schwersenz I, Wilson P.

J Neuromuscul Dis. 2018;5(2):131-133. doi: 10.3233/JND-180325. No abstract available.

48.

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.

Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Review.

49.

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.

50.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.

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