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Items: 1 to 50 of 157

1.

Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis.

De Paepe B, Merckx C, Jarošová J, Cannizzaro M, De Bleecker JL.

Biomolecules. 2020 Mar 30;10(4). pii: E521. doi: 10.3390/biom10040521.

PMID:
32235474
2.

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.

Hum Mutat. 2020 Jan 30. doi: 10.1002/humu.23993. [Epub ahead of print]

PMID:
31999394
3.

The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis.

De Paepe B, Verhamme F, De Bleecker JL.

Cytokine. 2020 Mar;127:154966. doi: 10.1016/j.cyto.2019.154966. Epub 2020 Jan 2.

PMID:
31901761
4.

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected.

De Ridder W, Azmi A, Clemen CS, Eichinger L, Hofmann A, Schröder R, Johnson K, Töpf A, Straub V, De Jonghe P, Maudsley S, De Bleecker JL, Baets J.

Neurology. 2020 Feb 25;94(8):e785-e796. doi: 10.1212/WNL.0000000000008763. Epub 2019 Dec 17.

PMID:
31848255
5.

A Phase 3 Multicenter, Prospective, Open-Label Efficacy and Safety Study of Immune Globulin (Human) 10% Caprylate/Chromatography Purified in Patients with Myasthenia Gravis Exacerbations.

Karelis G, Balasa R, De Bleecker JL, Stuchevskaya T, Villa A, Van Damme P, Lagrange E, Heckmann JM, Nicolle M, Vilciu C, Bril V, Mondou E, Griffin R, Chen J, Henriquez W, Garcia B, Camprubi S, Ayguasanosa J.

Eur Neurol. 2019;81(5-6):223-230. doi: 10.1159/000502818. Epub 2019 Oct 25.

6.

Healthcare utilization at the end of life in people dying from amyotrophic lateral sclerosis: A retrospective cohort study using linked administrative data.

Maetens A, Deliens L, De Bleecker J, Caraceni A, De Ridder M, Beernaert K, Cohen J.

J Neurol Sci. 2019 Nov 15;406:116444. doi: 10.1016/j.jns.2019.116444. Epub 2019 Aug 31.

PMID:
31520967
7.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.

Hanna MG, Badrising UA, Benveniste O, Lloyd TE, Needham M, Chinoy H, Aoki M, Machado PM, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Katsuno M, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Auberson LZ, Wu M, de Vera A, Papanicolaou DA, Amato AA; RESILIENT Study Group.

Lancet Neurol. 2019 Sep;18(9):834-844. doi: 10.1016/S1474-4422(19)30200-5.

PMID:
31397289
8.

Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review.

Meylemans A, De Bleecker J.

Acta Neurol Belg. 2019 Dec;119(4):523-533. doi: 10.1007/s13760-019-01199-z. Epub 2019 Aug 6.

PMID:
31388901
9.

Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading.

Olivier PA, De Paepe B, Aronica E, Berfelo F, Colman R, Amato A, Dimitri D, Gallardo E, Gherardi R, Goebel HH, Hilton-Jones D, Hofer M, Holton J, Schrøder HD, Selcen D, Stenzel W, de Visser M, De Bleecker JL.

Neurology. 2019 Aug 27;93(9):e889-e894. doi: 10.1212/WNL.0000000000008005. Epub 2019 Jul 29.

PMID:
31358616
10.

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, Zulaica M, López de Munain A, Asselbergh B, De Jonghe P, Baets J.

Brain. 2019 Sep 1;142(9):2605-2616. doi: 10.1093/brain/awz216.

PMID:
31332438
11.

Pitfalls in the detection of myositis specific antibodies by lineblot in clinically suspected idiopathic inflammatory myopathy.

Piette Y, De Sloovere M, Vandendriessche S, Dehoorne J, De Bleecker JL, Van Praet L, Vander Mijnsbrugge AS, De Schepper S, Jacques P, De Keyser F, Smith V, Bonroy C.

Clin Exp Rheumatol. 2020 Mar-Apr;38(2):212-219. Epub 2019 Jul 4.

PMID:
31287411
12.

Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups.

Rothwell S, Chinoy H, Lamb JA, Miller FW, Rider LG, Wedderburn LR, McHugh NJ, Mammen AL, Betteridge ZE, Tansley SL, Bowes J, Vencovský J, Deakin CT, Dankó K, Vidya L, Selva-O'Callaghan A, Pachman LM, Reed AM, Molberg Ø, Benveniste O, Mathiesen PR, Radstake TRDJ, Doria A, de Bleecker J, Lee AT, Hanna MG, Machado PM, Ollier WE, Gregersen PK, Padyukov L, O'Hanlon TP, Cooper RG, Lundberg IE; Myositis Genetics Consortium (MYOGEN).

Ann Rheum Dis. 2019 Jul;78(7):996-1002. doi: 10.1136/annrheumdis-2019-215046. Epub 2019 May 28.

13.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R.

Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.

PMID:
31135052
14.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Töpf A, Straub V, De Jonghe P, De Bleecker JL, Bonne G, Baets J.

Neurol Genet. 2019 Apr 1;5(2):e321. doi: 10.1212/NXG.0000000000000321. eCollection 2019 Apr.

15.

Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation.

Heytens K, De Ridder W, De Bleecker J, Heytens L, Baets J.

Anaesth Intensive Care. 2019 Mar;47(2):128-133. doi: 10.1177/0310057X19835830. Epub 2019 May 9.

PMID:
31070454
16.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.

Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.

PMID:
31068484
17.

Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.

Muppidi S, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casasnovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Howard JF Jr; Regain Study Group.

Muscle Nerve. 2019 Jul;60(1):14-24. doi: 10.1002/mus.26447. Epub 2019 Mar 8.

18.

Cladribine in myasthenia gravis: A case urging for prudence.

Laureys G, De Bleecker JL.

Muscle Nerve. 2019 May;59(5):E38. doi: 10.1002/mus.26446. Epub 2019 Feb 22. No abstract available.

PMID:
30758837
19.

Two successfully completed pregnancies in adult onset Pompe disease, under continued treatment with alglucosidase alfa.

Van Houtte J, De Bleecker JL.

Acta Neurol Belg. 2019 Mar;119(1):147-149. doi: 10.1007/s13760-019-01089-4. Epub 2019 Feb 4. No abstract available.

PMID:
30715719
20.

Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies.

Merkies ISJ, van Schaik IN, Léger JM, Bril V, van Geloven N, Hartung HP, Lewis RA, Sobue G, Lawo JP, Durn BL, Cornblath DR, De Bleecker JL, Sommer C, Robberecht W, Saarela M, Kamienowski J, Stelmasiak Z, Tackenberg B, Mielke O; PRIMA Trial Investigators and the PATH Study Group.

J Peripher Nerv Syst. 2019 Mar;24(1):48-55. doi: 10.1111/jns.12302. Epub 2019 Feb 15.

21.

Induction of Osmolyte Pathways in Skeletal Muscle Inflammation: Novel Biomarkers for Myositis.

De Paepe B, Zschüntzsch J, Šokčević T, Weis J, Schmidt J, De Bleecker JL.

Front Neurol. 2018 Oct 11;9:846. doi: 10.3389/fneur.2018.00846. eCollection 2018.

22.

Seronegative patients form a distinctive subgroup of immune-mediated necrotizing myopathy.

Lim J, Rietveld A, De Bleecker JL, Badrising UA, Saris CGJ, van der Kooi AJ, de Visser M.

Neurol Neuroimmunol Neuroinflamm. 2018 Oct 16;6(1):e513. doi: 10.1212/NXI.0000000000000513. eCollection 2019 Jan.

23.

Immune checkpoint failures in inflammatory myopathies: An overview.

Herbelet S, De Bleecker JL.

Autoimmun Rev. 2018 Aug;17(8):746-754. doi: 10.1016/j.autrev.2018.01.026. Epub 2018 Jun 6. Review.

PMID:
29885538
24.

Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

Wauters E, Van Mossevelde S, Sleegers K, van der Zee J, Engelborghs S, Sieben A, Vandenberghe R, Philtjens S, Van den Broeck M, Peeters K, Cuijt I, De Coster W, Van Langenhove T, Santens P, Ivanoiu A, Cras P, De Bleecker JL, Versijpt J, Crols R, De Klippel N, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology (BELNEU) Consortium.

Neurobiol Aging. 2018 Jul;67:84-94. doi: 10.1016/j.neurobiolaging.2018.03.007. Epub 2018 Mar 10.

25.

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, Chioza BA, Blakely RD, Chilton JK, De Bleecker J, Baets J, Baple EL, Walk D, Crosby AH.

Neurol Genet. 2018 Mar 23;4(2):e222. doi: 10.1212/NXG.0000000000000222. eCollection 2018 Apr.

26.

Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.

Martens B, De Pauw M, De Bleecker JL.

Acta Neurol Belg. 2018 Jun;118(2):179-185. doi: 10.1007/s13760-018-0906-z. Epub 2018 Mar 9. Review.

PMID:
29524093
27.

Localization and Expression of Nuclear Factor of Activated T-Cells 5 in Myoblasts Exposed to Pro-inflammatory Cytokines or Hyperosmolar Stress and in Biopsies from Myositis Patients.

Herbelet S, De Vlieghere E, Gonçalves A, De Paepe B, Schmidt K, Nys E, Weynants L, Weis J, Van Peer G, Vandesompele J, Schmidt J, De Wever O, De Bleecker JL.

Front Physiol. 2018 Feb 21;9:126. doi: 10.3389/fphys.2018.00126. eCollection 2018.

28.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V.

JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. Erratum in: JAMA Neurol. 2018 Nov 1;75(11):1443.

29.

Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna et al.

Lilleker JB, Vencovsky J, Wang G, Wedderburn LR, Diederichsen LP, Schmidt J, Jordan P, Benveniste O, Danieli MG, Dankó K, Phuong Thuy NT, Vázquez-Del Mercado M, Andersson H, Paepe B, De Bleecker JL, Maurer B, McCann LJ, Pipitone N, McHugh N, Betteridge Z, New P, Cooper RG, Ollier WE, Lamb JA, Krogh NS, Lundberg IE, Chinoy H; all EuroMyositis contributors.

Ann Rheum Dis. 2018 Aug;77(8):e51. doi: 10.1136/annrheumdis-2017-212382. Epub 2017 Dec 19. No abstract available.

PMID:
29259048
30.

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M.

Neurobiol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24.

PMID:
29137817
31.

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.

Nguyen HP, Van Mossevelde S, Dillen L, De Bleecker JL, Moisse M, Van Damme P, Van Broeckhoven C, van der Zee J; BELNEU Consortium.

Neurobiol Aging. 2018 Jan;61:255.e1-255.e7. doi: 10.1016/j.neurobiolaging.2017.08.021. Epub 2017 Aug 31.

32.

Minimum clinically important difference analysis confirms the efficacy of IgPro10 in CIDP: the PRIMA trial.

Merkies ISJ, Lawo JP, Edelman JM, De Bleecker JL, Sommer C, Robberecht W, Saarela M, Kamienowski J, Stelmasiak Z, Mielke O, Tackenberg B, Léger JM; PRIMA trial investigators.

J Peripher Nerv Syst. 2017 Jun;22(2):149-152. doi: 10.1111/jns.12204. No abstract available.

33.

Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation.

Heytens K, De Bleecker J, Verbrugghe W, Baets J, Heytens L.

World J Crit Care Med. 2017 Feb 4;6(1):21-27. doi: 10.5492/wjccm.v6.i1.21. eCollection 2017 Feb 4. Review.

34.

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion.

Van Mossevelde S, van der Zee J, Gijselinck I, Sleegers K, De Bleecker J, Sieben A, Vandenberghe R, Van Langenhove T, Baets J, Deryck O, Santens P, Ivanoiu A, Willems C, Bäumer V, Van den Broeck M, Peeters K, Mattheijssens M, De Jonghe P, Cras P, Martin JJ, Cruts M, De Deyn PP, Engelborghs S, Van Broeckhoven C; Belgian Neurology (BELNEU) Consortium.

JAMA Neurol. 2017 Apr 1;74(4):445-452. doi: 10.1001/jamaneurol.2016.4847.

PMID:
28192553
35.

Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum.

Rothwell S, Cooper RG, Lundberg IE, Gregersen PK, Hanna MG, Machado PM, Herbert MK, Pruijn GJM, Lilleker JB, Roberts M, Bowes J, Seldin MF, Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Platt H, Molberg Ø, Benveniste O, Radstake TRDJ, Doria A, De Bleecker J, De Paepe B, Gieger C, Meitinger T, Winkelmann J, Amos CI, Ollier WE, Padyukov L, Lee AT, Lamb JA, Chinoy H; Myositis Genetics Consortium.

Arthritis Rheumatol. 2017 May;69(5):1090-1099. doi: 10.1002/art.40045. Epub 2017 Apr 4.

36.

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

Perrone F, Nguyen HP, Van Mossevelde S, Moisse M, Sieben A, Santens P, De Bleecker J, Vandenbulcke M, Engelborghs S, Baets J, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Martin JJ, Van Damme P, Van Broeckhoven C, van der Zee J; Belgian Neurology consortium.

Neurobiol Aging. 2017 Mar;51:177.e9-177.e16. doi: 10.1016/j.neurobiolaging.2016.12.008. Epub 2016 Dec 21.

37.

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S.

Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19.

38.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Evilä A, Palmio J, Vihola A, Savarese M, Tasca G, Penttilä S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B.

Mol Neurobiol. 2017 Nov;54(9):7212-7223. doi: 10.1007/s12035-016-0242-3. Epub 2016 Oct 29.

PMID:
27796757
39.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium.

Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8.

40.

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB 3rd, Roda RH, Liepert J, Züchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC.

Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct. Erratum in: Neurol Genet. 2016 Oct 06;2(5):e111.

41.

Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism.

De Paepe B, Martin JJ, Herbelet S, Jimenez-Mallebrera C, Iglesias E, Jou C, Weis J, De Bleecker JL.

Lab Invest. 2016 Aug;96(8):872-84. doi: 10.1038/labinvest.2016.68. Epub 2016 Jun 20.

42.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V.

Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Erratum in: Neurology. 2018 Jun 5;90(23):1084. Neurology. 2019 Aug 20;93(8):371.

43.

Myopathy mimicking an acute coronary syndrome.

De Beenhouwer T, Hofmans M, De Bleecker J, Brandt I, Van Mieghem C.

Acta Clin Belg. 2016 Dec;71(6):426-427. Epub 2016 Apr 22. No abstract available.

PMID:
27104632
44.

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

Van Mossevelde S, van der Zee J, Gijselinck I, Engelborghs S, Sieben A, Van Langenhove T, De Bleecker J, Baets J, Vandenbulcke M, Van Laere K, Ceyssens S, Van den Broeck M, Peeters K, Mattheijssens M, Cras P, Vandenberghe R, De Jonghe P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology consortium.

Brain. 2016 Feb;139(Pt 2):452-67. doi: 10.1093/brain/awv358. Epub 2015 Dec 15.

45.

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, Heeman B, Bäumer V, Van den Broeck M, Mattheijssens M, Peeters K, Rogaeva E, De Jonghe P, Cras P, Martin JJ, de Deyn PP, Cruts M, Van Broeckhoven C.

Mol Psychiatry. 2016 Aug;21(8):1112-24. doi: 10.1038/mp.2015.159. Epub 2015 Oct 20.

46.

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.

Rothwell S, Cooper RG, Lundberg IE, Miller FW, Gregersen PK, Bowes J, Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Hanna MG, Machado PM, Pachman LM, Reed AM, Rider LG, Cobb J, Platt H, Molberg Ø, Benveniste O, Mathiesen P, Radstake T, Doria A, De Bleecker J, De Paepe B, Maurer B, Ollier WE, Padyukov L, O'Hanlon TP, Lee A, Amos CI, Gieger C, Meitinger T, Winkelmann J, Wedderburn LR, Chinoy H, Lamb JA; Myositis Genetics Consortium.

Ann Rheum Dis. 2016 Aug;75(8):1558-66. doi: 10.1136/annrheumdis-2015-208119. Epub 2015 Sep 11.

47.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V.

Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30.

48.

Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases.

Herbert MK, Stammen-Vogelzangs J, Verbeek MM, Rietveld A, Lundberg IE, Chinoy H, Lamb JA, Cooper RG, Roberts M, Badrising UA, De Bleecker JL, Machado PM, Hanna MG, Plestilova L, Vencovsky J, van Engelen BG, Pruijn GJ.

Ann Rheum Dis. 2016 Apr;75(4):696-701. doi: 10.1136/annrheumdis-2014-206691. Epub 2015 Feb 24.

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Neurological involvement in Erdheim-Chester disease.

Nys E, Weynants L, Vanneuville B, Lemmerling M, De Bleecker JL.

Acta Neurol Belg. 2015 Dec;115(4):823-5. doi: 10.1007/s13760-015-0441-0. Epub 2015 Feb 14. No abstract available.

PMID:
25676002
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The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#).

Neurobiol Aging. 2015 Apr;36(4):1766.e1-1766.e3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14.

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