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Items: 1 to 20 of 210

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.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Oláhová M, Berti CC, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA.

Hum Mol Genet. 2019 Aug 22. pii: ddz202. doi: 10.1093/hmg/ddz202. [Epub ahead of print]

PMID:
31435670
3.

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.

4.

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
5.

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.

Gatz C, Hathazi D, Münchberg U, Buchkremer S, Labisch T, Munro B, Horvath R, Töpf A, Weis J, Roos A.

Front Neurol. 2019 Jun 14;10:562. doi: 10.3389/fneur.2019.00562. eCollection 2019.

6.

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.

7.

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.

8.

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.

Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E.

Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.

PMID:
31202468
9.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.

PMID:
31187502
10.

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.

Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U.

Front Neurol. 2019 May 7;10:470. doi: 10.3389/fneur.2019.00470. eCollection 2019.

11.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

12.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

PMID:
31070812
13.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M.

Hum Mutat. 2019 May 2. doi: 10.1002/humu.23777. [Epub ahead of print]

PMID:
31045291
14.

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S.

J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.

PMID:
30683676
15.

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A.

Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22.

PMID:
30682426
16.

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, Velasco KR, Area-Gomez E, Dal Bello F, De Stefani D, Horvath R, Shy ME, Schon EA, Giacomello M.

Hum Mol Genet. 2019 Jun 1;28(11):1782-1800. doi: 10.1093/hmg/ddz008.

17.

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.

18.

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
19.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J.

Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6. Epub 2018 Nov 21.

PMID:
30460542
20.

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish.

Munro B, Horvath R, Müller JS.

Hum Mol Genet. 2019 Mar 1;28(5):796-803. doi: 10.1093/hmg/ddy389.

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