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Items: 1 to 50 of 62

1.

Modeling hematopoietic disorders in zebrafish.

Konantz M, Schürch C, Hanns P, Müller JS, Sauteur L, Lengerke C.

Dis Model Mech. 2019 Sep 6;12(9). pii: dmm040360. doi: 10.1242/dmm.040360. Review.

2.

Zebrafish Xenografts for the In Vivo Analysis of Healthy and Malignant Human Hematopoietic Cells.

Konantz M, Müller JS, Lengerke C.

Methods Mol Biol. 2019;2017:205-217. doi: 10.1007/978-1-4939-9574-5_16.

PMID:
31197779
3.

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.

4.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

5.

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.

6.

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.

Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R.

Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. doi: 10.1093/hmg/ddy127.

7.

Molecular characterization of congenital myasthenic syndromes in Spain.

Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A.

Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18.

PMID:
29054425
8.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S.

J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.

9.

A mathematical model for the two-learners problem.

Müller JS, Vidaurre C, Schreuder M, Meinecke FC, von Bünau P, Müller KR.

J Neural Eng. 2017 Jun;14(3):036005. doi: 10.1088/1741-2552/aa620b. Epub 2017 Feb 22.

PMID:
28224972
10.

Phenotypic convergence of Menkes and Wilson disease.

Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R.

Neurol Genet. 2016 Nov 17;2(6):e119. eCollection 2016 Dec.

11.

Evi1 regulates Notch activation to induce zebrafish hematopoietic stem cell emergence.

Konantz M, Alghisi E, Müller JS, Lenard A, Esain V, Carroll KJ, Kanz L, North TE, Lengerke C.

EMBO J. 2016 Nov 2;35(21):2315-2331. Epub 2016 Sep 16.

12.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

O'Connor E, Töpf A, Müller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmüller H.

Brain. 2016 Aug;139(Pt 8):2143-53. doi: 10.1093/brain/aww130. Epub 2016 Jun 3.

13.

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R.

Hum Mol Genet. 2016 Jul 15;25(14):2985-2996. Epub 2016 May 18.

14.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H.

J Neurol. 2016 Mar;263(3):517-23. doi: 10.1007/s00415-015-8015-x. Epub 2016 Jan 11.

PMID:
26754003
15.

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).

Chen Q, Müller JS, Pang PC, Laval SH, Haslam SM, Lochmüller H, Dell A.

Biomolecules. 2015 Oct 16;5(4):2758-81. doi: 10.3390/biom5042758.

16.

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Dusl M, Senderek J, Müller JS, Vogel JG, Pertl A, Stucka R, Lochmüller H, David R, Abicht A.

Hum Mol Genet. 2015 Jun 15;24(12):3418-26. doi: 10.1093/hmg/ddv090. Epub 2015 Mar 12.

PMID:
25765662
17.

Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.

Müller JS, Giunta M, Horvath R.

J Neuromuscul Dis. 2015;2(Suppl 2):S31-S37. Epub 2015 Jul 22.

18.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R.

Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.

19.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PMID:
24951643
20.

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H.

J Neuromuscul Dis. 2014;1(1):75-90.

21.

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A.

Neuromuscul Disord. 2014 Jan;24(1):31-5. doi: 10.1016/j.nmd.2013.08.002. Epub 2013 Aug 7.

22.

Orals in the bundle: a policy framework.

Feldman RL, Desmarais MP, Muller JS.

Clin J Am Soc Nephrol. 2013 Jun;8(6):1043-7. doi: 10.2215/CJN.11621112. Epub 2013 Apr 18.

23.

Presymptomatic late-onset Pompe disease identified by the dried blood spot test.

Wagner M, Chaouch A, Müller JS, Polvikoski T, Willis TA, Sarkozy A, Eagle M, Bushby K, Straub V, Lochmüller H.

Neuromuscul Disord. 2013 Jan;23(1):89-92. doi: 10.1016/j.nmd.2012.09.004. Epub 2012 Oct 10.

PMID:
23062590
24.

Medicare patient experience with vagus nerve stimulation for treatment-resistant depression.

Feldman RL, Dunner DL, Muller JS, Stone DA.

J Med Econ. 2013;16(1):62-74. doi: 10.3111/13696998.2012.724745. Epub 2012 Sep 17.

PMID:
22954061
25.

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Müller JS, Lochmüller H.

Hum Mutat. 2012 Oct;33(10):1474-84. doi: 10.1002/humu.22130. Epub 2012 Jun 27.

PMID:
22678886
26.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H.

J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6.

PMID:
21975507
27.

Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.

Wood AJ, Müller JS, Jepson CD, Laval SH, Lochmüller H, Bushby K, Barresi R, Straub V.

Hum Mol Genet. 2011 Dec 15;20(24):4879-90. doi: 10.1093/hmg/ddr426. Epub 2011 Sep 15.

PMID:
21926082
28.

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.

Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H.

J Neurol. 2012 Mar;259(3):474-81. doi: 10.1007/s00415-011-6204-9. Epub 2011 Aug 7.

PMID:
21822932
29.

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.

Barišić N, Chaouch A, Müller JS, Lochmüller H.

Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn.2011.03.006. Epub 2011 Apr 17. Review.

PMID:
21498094
30.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H.

Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008.

31.

[Value of surgery in the palliative therapy for rectal cancer].

Delgadillo X, Müller JS, Solass W, Reymond MA.

Zentralbl Chir. 2010 Dec;135(6):523-7. doi: 10.1055/s-0030-1262692. Epub 2010 Dec 13. Review. German.

PMID:
21154209
32.

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.

Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Müller JS, Lochmüller H.

J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):973-7. doi: 10.1136/jnnp.2009.177816. Epub 2010 Jun 20.

PMID:
20562457
33.

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

Müller JS, Jepson CD, Laval SH, Bushby K, Straub V, Lochmüller H.

Hum Mol Genet. 2010 May 1;19(9):1726-40. doi: 10.1093/hmg/ddq049. Epub 2010 Feb 10.

PMID:
20147321
34.

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V.

Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9. No abstract available.

PMID:
19949040
35.

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.

Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller JS, Lochmüller H.

Eur J Paediatr Neurol. 2010 Jul;14(4):326-33. doi: 10.1016/j.ejpn.2009.09.009. Epub 2009 Nov 8.

PMID:
19900826
36.

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.

Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller JS, Lochmüller H.

Neuromuscul Disord. 2009 Dec;19(12):828-32. doi: 10.1016/j.nmd.2009.09.008. Epub 2009 Oct 17.

PMID:
19837590
37.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D.

Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b.

PMID:
19064877
38.

Late onset in dysferlinopathy widens the clinical spectrum.

Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Müller JS, Anderson LV, Straub V, Barresi R, Lochmüller H, Bushby K.

Neuromuscul Disord. 2008 Apr;18(4):288-90. doi: 10.1016/j.nmd.2008.01.004.

PMID:
18396043
39.

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.

Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7.

PMID:
18180250
40.

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS, Mihaylova V, Abicht A, Lochmüller H.

Expert Rev Mol Med. 2007 Aug 9;9(22):1-20. Review.

PMID:
17686188
41.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17.

PMID:
17439981
42.

Unusual features in a boy with the rapsyn N88K mutation.

Skeie GO, Aurlien H, Müller JS, Lochmüller H, Norgârd G, Bindoff LA.

Neurology. 2006 Dec 26;67(12):2262-3. No abstract available.

PMID:
17190963
43.

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.

Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H.

Neurology. 2006 Oct 10;67(7):1159-64. Epub 2006 Aug 23.

PMID:
16931511
44.

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Müller JS, Lochmüller H, Slater C, Vincent A, Yamanashi Y.

Science. 2006 Sep 29;313(5795):1975-8. Epub 2006 Aug 17.

45.

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A.

Brain. 2006 Oct;129(Pt 10):2784-93. Epub 2006 Aug 17.

PMID:
16916845
46.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S.

Am J Hum Genet. 2006 Aug;79(2):303-12. Epub 2006 Jun 20.

47.

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.

Neuromuscul Disord. 2006 Jul;16(7):432-6. Epub 2006 May 26.

PMID:
16730439
48.

Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine.

Colomer J, Müller JS, Vernet A, Nascimento A, Pons M, Gonzalez V, Abicht A, Lochmüller H.

Neuromuscul Disord. 2006 May;16(5):329-33. Epub 2006 Apr 18.

PMID:
16621558
49.

Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.

von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Huebner A.

Neuromuscul Disord. 2006 Jan;16(1):4-13. Epub 2005 Dec 27.

PMID:
16378727
50.

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A.

Neurology. 2005 Aug 9;65(3):463-5.

PMID:
16087917

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