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Items: 1 to 50 of 210

1.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J.

Acta Neuropathol. 2019 Sep;138(3):477-495. doi: 10.1007/s00401-019-02034-8. Epub 2019 Jun 19.

2.

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.

Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F.

Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27.

PMID:
31130378
3.

Recessive MYH7-related myopathy in two families.

Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H.

Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12.

PMID:
31130376
4.

Transcriptional Regulation of the Glutamate/GABA/Glutamine Cycle in Adult Glia Controls Motor Activity and Seizures in Drosophila.

Mazaud D, Kottler B, Gonçalves-Pimentel C, Proelss S, Tüchler N, Deneubourg C, Yuasa Y, Diebold C, Jungbluth H, Lai EC, Hirth F, Giangrande A, Fanto M.

J Neurosci. 2019 Jul 3;39(27):5269-5283. doi: 10.1523/JNEUROSCI.1833-18.2019. Epub 2019 May 7.

5.

Therapeutic Aspects in Congenital Myopathies.

Jungbluth H, Muntoni F.

Semin Pediatr Neurol. 2019 Apr;29:71-82. doi: 10.1016/j.spen.2019.01.004. Epub 2019 Jan 16.

PMID:
31060727
6.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S.

Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1.

PMID:
30932294
7.

Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series.

Zvaritch E, Gillies R, Kraeva N, Richer M, Jungbluth H, Riazi S.

Can J Anaesth. 2019 May;66(5):540-545. doi: 10.1007/s12630-019-01320-z. Epub 2019 Feb 19.

PMID:
30805902
8.

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC.

J Neurol. 2019 Apr;266(4):876-887. doi: 10.1007/s00415-019-09209-z. Epub 2019 Feb 20.

9.

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study.

van Ruitenbeek E, Custers JAE, Verhaak C, Snoeck M, Erasmus CE, Kamsteeg EJ, Schouten MI, Coleman C, Treves S, Van Engelen BG, Jungbluth H, Voermans NC.

Neuromuscul Disord. 2019 Jan;29(1):30-38. doi: 10.1016/j.nmd.2018.10.006. Epub 2018 Nov 9.

PMID:
30578099
10.

Driving next-generation autophagy researchers towards translation (DRIVE), an international PhD training program on autophagy.

Kraft C, Boya P, Codogno P, Elazar Z, Eskelinen EL, Farrés J, Kirkin V, Jungbluth H, Martinez A, Pless O, Primard C, Proikas-Cezanne T, Simonsen A, Reggiori F.

Autophagy. 2019 Feb;15(2):347-351. doi: 10.1080/15548627.2018.1515532. Epub 2018 Sep 13.

11.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.

Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

PMID:
30168660
12.

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Ullmann U, D'Argenzio L, Mathur S, Whyte T, Quinlivan R, Longman C, Farrugia ME, Manzur A, Willis T, Jungbluth H, Pitt M, Cirak S; UK10K consortium, Feng L, Stewart W, Mein R, Phadke R, Sewry C, Sarkozy A, Muntoni F.

Neuromuscul Disord. 2018 Sep;28(9):741-749. doi: 10.1016/j.nmd.2018.05.012. Epub 2018 Jun 30.

PMID:
30131190
13.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J.

Neuropediatrics. 2018 Oct;49(5):330-338. doi: 10.1055/s-0038-1661396. Epub 2018 Jun 25.

PMID:
29940663
14.

Unusual Presentations of Dystrophinopathies in Childhood.

Allen NM, Ewer A, Nakou V, Konstantoulaki E, Wraige E, Gowda V, Jungbluth H.

Pediatrics. 2018 Apr;141(Suppl 5):S510-S514. doi: 10.1542/peds.2017-2391.

15.

Parental mosaicism in RYR1-related Central Core Disease.

Marks S, van Ruitenbeek E, Fallon P, Johns P, Phadke R, Mein R, Mohammed S, Jungbluth H.

Neuromuscul Disord. 2018 May;28(5):422-426. doi: 10.1016/j.nmd.2018.02.011. Epub 2018 Feb 26.

PMID:
29576327
16.

Neck-Tongue Syndrome: An Underrecognized Childhood Onset Cephalalgia.

Allen NM, Dafsari HS, Wraige E, Jungbluth H.

J Child Neurol. 2018 Apr;33(5):347-350. doi: 10.1177/0883073818756681. Epub 2018 Feb 16.

PMID:
29451061
17.

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F.

Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. Review.

PMID:
29391587
18.

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.

Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG.

Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. Epub 2018 Jan 3.

19.

Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration.

Baron O, Boudi A, Dias C, Schilling M, Nölle A, Vizcay-Barrena G, Rattray I, Jungbluth H, Scheper W, Fleck RA, Bates GP, Fanto M.

Curr Biol. 2017 Dec 4;27(23):3626-3642.e6. doi: 10.1016/j.cub.2017.10.054. Epub 2017 Nov 22.

20.

Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.

Brackmann F, Türk M, Gratzki N, Rompel O, Jungbluth H, Schröder R, Trollmann R.

Neuromuscul Disord. 2018 Jan;28(1):54-58. doi: 10.1016/j.nmd.2017.09.009. Epub 2017 Sep 28.

PMID:
29169929
21.

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Piano Mortari E, Folgiero V, Marcellini V, Romania P, Bellacchio E, D'Alicandro V, Bocci C, Carrozzo R, Martinelli D, Petrini S, Axiotis E, Farroni C, Locatelli F, Schara U, Pilz DT, Jungbluth H, Dionisi-Vici C, Carsetti R.

Autophagy. 2018;14(1):22-37. doi: 10.1080/15548627.2017.1389356. Epub 2018 Jan 2.

22.

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H.

Am J Med Genet A. 2017 Sep;173(9):2522-2527. doi: 10.1002/ajmg.a.38342. Epub 2017 Jul 27.

PMID:
28748650
23.

Myopathology in times of modern imaging.

Jungbluth H.

Neuropathol Appl Neurobiol. 2017 Feb;43(1):24-43. doi: 10.1111/nan.12385. Review.

PMID:
28111795
24.

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

Scalco RS, Lorenzoni PJ, Lynch DS, Martins WA, Jungbluth H, Quinlivan R, Becker J, Houlden H.

Am J Case Rep. 2017 Jan 5;18:17-21.

25.

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S.

Hum Mol Genet. 2017 Jan 15;26(2):320-332. doi: 10.1093/hmg/ddw388.

PMID:
28007904
26.

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Scalco RS, Snoeck M, Quinlivan R, Treves S, Laforét P, Jungbluth H, Voermans NC.

BMJ Open Sport Exerc Med. 2016 Sep 7;2(1):e000151. eCollection 2016.

27.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.

Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. Epub 2016 Mar 22.

PMID:
27005418
28.

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.

Voermans NC, Snoeck M, Jungbluth H.

Rev Neurol (Paris). 2016 Oct;172(10):546-558. doi: 10.1016/j.neurol.2016.07.018. Epub 2016 Sep 20. Review.

PMID:
27663056
29.

Congenital myopathies: not only a paediatric topic.

Jungbluth H, Voermans NC.

Curr Opin Neurol. 2016 Oct;29(5):642-50. doi: 10.1097/WCO.0000000000000372. Review.

PMID:
27538056
30.

Current and future therapeutic approaches to the congenital myopathies.

Jungbluth H, Ochala J, Treves S, Gautel M.

Semin Cell Dev Biol. 2017 Apr;64:191-200. doi: 10.1016/j.semcdb.2016.08.004. Epub 2016 Aug 8. Review.

PMID:
27515125
31.

Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis.

Scalco RS, Voermans NC, Piercy RJ, Jungbluth H, Quinlivan R.

Eur J Neurol. 2016 Aug;23(8):e56-7. doi: 10.1111/ene.13051. No abstract available.

PMID:
27431030
32.

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Treves S, Jungbluth H, Voermans N, Muntoni F, Zorzato F.

Semin Cell Dev Biol. 2017 Apr;64:201-212. doi: 10.1016/j.semcdb.2016.07.017. Epub 2016 Jul 15. Review.

PMID:
27427513
33.

Narrowing of the radicular pulp space in coronally restored teeth.

Fleig S, Attin T, Jungbluth H.

Clin Oral Investig. 2017 May;21(4):1251-1257. doi: 10.1007/s00784-016-1899-8. Epub 2016 Jul 10.

34.

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Lopez RJ, Byrne S, Vukcevic M, Sekulic-Jablanovic M, Xu L, Brink M, Alamelu J, Voermans N, Snoeck M, Clement E, Muntoni F, Zhou H, Radunovic A, Mohammed S, Wraige E, Zorzato F, Treves S, Jungbluth H.

Sci Signal. 2016 Jul 5;9(435):ra68. doi: 10.1126/scisignal.aad9813.

PMID:
27382027
35.

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.

Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F; RYR1 Myopathy Consortium.

Neuromuscul Disord. 2016 Sep;26(9):624-33. doi: 10.1016/j.nmd.2016.06.001. Epub 2016 Jun 7. No abstract available.

PMID:
27377473
36.

Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Byrne S, Cullup T, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Sep;139(Pt 9):e53. doi: 10.1093/brain/aww136. Epub 2016 Jun 24. No abstract available.

PMID:
27343258
37.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

38.

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.

Mitzelfelt KA, Limphong P, Choi MJ, Kondrat FD, Lai S, Kolander KD, Kwok WM, Dai Q, Grzybowski MN, Zhang H, Taylor GM, Lui Q, Thao MT, Hudson JA, Barresi R, Bushby K, Jungbluth H, Wraige E, Geurts AM, Benesch JL, Riedel M, Christians ES, Minella AC, Benjamin IJ.

J Biol Chem. 2016 Jul 15;291(29):14939-53. doi: 10.1074/jbc.M116.730481. Epub 2016 May 19.

39.

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R.

Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7.

40.

"Human Stress Syndrome" and the Expanding Spectrum of RYR1-Related Myopathies.

Snoeck M, Treves S, Molenaar JP, Kamsteeg EJ, Jungbluth H, Voermans NC.

Cell Biochem Biophys. 2016 Mar;74(1):85-7. doi: 10.1007/s12013-015-0704-7. No abstract available.

PMID:
26972305
41.

Vici syndrome: a review.

Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H.

Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Review.

42.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

43.

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC Jr, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR Jr, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, 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J Pediatr. 2016 Mar;170:334-e1. doi: 10.1016/j.jpeds.2015.11.077. Epub 2016 Jan 6. No abstract available.

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