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Items: 1 to 50 of 215

1.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007098. doi: 10.1212/WNL.0000000000007098. [Epub ahead of print]

PMID:
30737337
2.

Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal.

Yadak R, Breur M, Bugiani M.

Orphanet J Rare Dis. 2019 Feb 8;14(1):33. doi: 10.1186/s13023-019-1016-6. Review.

3.

The Characteristics of Severe Chronic Upper-Airway Disease (SCUAD) in Patients with Allergic Rhinitis: A Real-Life Multicenter Cross-Sectional Italian Study.

Gani F, Lombardi C, Bonizzoni G, Rolla G, Brussino L, Landi M, Schiappoli M, Senna G, Savi E, Ridolo E, Ventura MT, Gamba P, Patella V, Bugiani M.

Int Arch Allergy Immunol. 2019 Jan 3:1-5. doi: 10.1159/000495305. [Epub ahead of print]

PMID:
30605899
4.

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM, van de Pol LA, van Weissenbruch MM, van der Knoop BJ, de Vries JI.

Prenat Diagn. 2018 Dec 22. doi: 10.1002/pd.5411. [Epub ahead of print]

PMID:
30578734
5.

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

Joyal KM, Michaud J, van der Knaap MS, Bugiani M, Venkateswaran S.

J Neuropathol Exp Neurol. 2019 Jan 1;78(1):3-9. doi: 10.1093/jnen/nly105.

PMID:
30476126
6.

Leukodystrophies - much more than just diseases of myelin.

van der Knaap MS, Bugiani M.

Nat Rev Neurol. 2018 Dec;14(12):747-748. doi: 10.1038/s41582-018-0093-9. No abstract available.

PMID:
30341432
7.

Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice.

Yadak R, Boot MV, van Til NP, Cazals-Hatem D, Finkenstedt A, Bogaerts E, de Coo IF, Bugiani M.

BMC Gastroenterol. 2018 Oct 19;18(1):149. doi: 10.1186/s12876-018-0881-0.

8.

MELK Inhibition in Diffuse Intrinsic Pontine Glioma.

Meel MH, de Gooijer MC, Guillén Navarro M, Waranecki P, Breur M, Buil LCM, Wedekind LE, Twisk JWR, Koster J, Hashizume R, Raabe EH, Montero Carcaboso A, Bugiani M, van Tellingen O, van Vuurden DG, Kaspers GJL, Hulleman E.

Clin Cancer Res. 2018 Nov 15;24(22):5645-5657. doi: 10.1158/1078-0432.CCR-18-0924. Epub 2018 Jul 30.

PMID:
30061363
9.

Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer's disease.

Hondius DC, Eigenhuis KN, Morrema THJ, van der Schors RC, van Nierop P, Bugiani M, Li KW, Hoozemans JJM, Smit AB, Rozemuller AJM.

Acta Neuropathol Commun. 2018 Jun 4;6(1):46. doi: 10.1186/s40478-018-0540-2.

10.

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.

Bugiani M, Vuong C, Breur M, van der Knaap MS.

Brain Pathol. 2018 May;28(3):408-421. doi: 10.1111/bpa.12606. Review.

PMID:
29740943
11.

Leukodystrophies due to astroyctic dysfunction.

Bugiani M, Breur M.

Brain Pathol. 2018 May;28(3):369-371. doi: 10.1111/bpa.12607.

PMID:
29740940
12.

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.

Yadak R, Cabrera-Pérez R, Torres-Torronteras J, Bugiani M, Haeck JC, Huston MW, Bogaerts E, Goffart S, Jacobs EH, Stok M, Leonardelli L, Biasco L, Verdijk RM, Bernsen MR, Ruijter G, Martí R, Wagemaker G, van Til NP, de Coo IFM.

Mol Ther Methods Clin Dev. 2018 Jan 8;8:152-165. doi: 10.1016/j.omtm.2018.01.001. eCollection 2018 Mar 16.

13.

Axonal abnormalities in vanishing white matter.

Klok MD, Bugiani M, de Vries SI, Gerritsen W, Breur M, van der Sluis S, Heine VM, Kole MHP, Baron W, van der Knaap MS.

Ann Clin Transl Neurol. 2018 Mar 1;5(4):429-444. doi: 10.1002/acn3.540. eCollection 2018 Apr.

14.

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.

Dubey M, Brouwers E, Hamilton EMC, Stiedl O, Bugiani M, Koch H, Kole MHP, Boschert U, Wykes RC, Mansvelder HD, van der Knaap MS, Min R.

Ann Neurol. 2018 Mar;83(3):636-649. doi: 10.1002/ana.25190. Epub 2018 Mar 13.

15.

The control of allergic rhinitis in real life: a multicenter cross-sectional Italian study.

Gani F, Lombardi C, Barrocu L, Landi M, Ridolo E, Bugiani M, Rolla G, Senna G, Passalacqua G.

Clin Mol Allergy. 2018 Feb 2;16:4. doi: 10.1186/s12948-018-0082-y. eCollection 2018.

16.

Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21.

Schut PC, Ten Broek CMA, Cohen-Overbeek TE, Bugiani M, Steegers EAP, Eggink AJ, Galis F.

J Matern Fetal Neonatal Med. 2018 Feb 5:1-7. doi: 10.1080/14767058.2018.1431622. [Epub ahead of print]

PMID:
29353507
17.

Correction: Seventy Years of Asthma in Italy: Age, Period and Cohort Effects on Incidence and Remission of Self-Reported Asthma from 1940 to 2010.

Pesce G, Locatelli F, Cerveri I, Bugiani M, Pirina P, Johannessen A, Accordini S, Zanolin ME, Verlato G, de Marco R.

PLoS One. 2018 Jan 17;13(1):e0191589. doi: 10.1371/journal.pone.0191589. eCollection 2018.

18.

Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.

Leferink PS, Breeuwsma N, Bugiani M, van der Knaap MS, Heine VM.

Glia. 2018 Apr;66(4):862-873. doi: 10.1002/glia.23289. Epub 2017 Dec 29.

19.

4H Leukodystrophy: Lessons from 3T Imaging.

Cayami FK, Bugiani M, Pouwels PJW, Bernard G, van der Knaap MS, Wolf NI.

Neuropediatrics. 2018 Apr;49(2):112-117. doi: 10.1055/s-0037-1608780. Epub 2017 Nov 27.

PMID:
29179231
20.

Trimethylation of H3K27 during human cerebellar development in relation to medulloblastoma.

Mir SE, Smits M, Biesmans D, Julsing M, Bugiani M, Aronica E, Kaspers GJL, Cloos J, Würdinger T, Hulleman E.

Oncotarget. 2017 Sep 8;8(45):78978-78988. doi: 10.18632/oncotarget.20741. eCollection 2017 Oct 3.

21.

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A.

Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338.

PMID:
28973395
22.

Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment.

Dooves S, Bugiani M, Wisse LE, Abbink TEM, van der Knaap MS, Heine VM.

Neuropathol Appl Neurobiol. 2018 Jun;44(4):391-403. doi: 10.1111/nan.12411. Epub 2017 Aug 1.

PMID:
28953319
23.

Deceptive morphologic and epigenetic heterogeneity in diffuse intrinsic pontine glioma.

Bugiani M, Veldhuijzen van Zanten SEM, Caretti V, Schellen P, Aronica E, Noske DP, Vandertop WP, Kaspers GJL, van Vuurden DG, Wesseling P, Hulleman E.

Oncotarget. 2017 Jul 31;8(36):60447-60452. doi: 10.18632/oncotarget.19726. eCollection 2017 Sep 1.

24.

Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment.

van Rappard DF, Klauser A, Steenweg ME, Boelens JJ, Bugiani M, van der Knaap MS, Wolf NI, Pouwels PJW.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):105-111. doi: 10.1136/jnnp-2017-316364. Epub 2017 Sep 9.

PMID:
28889092
25.

Multiregional Tumor Drug-Uptake Imaging by PET and Microvascular Morphology in End-Stage Diffuse Intrinsic Pontine Glioma.

Veldhuijzen van Zanten SEM, Sewing ACP, van Lingen A, Hoekstra OS, Wesseling P, Meel MH, van Vuurden DG, Kaspers GJL, Hulleman E, Bugiani M.

J Nucl Med. 2018 Apr;59(4):612-615. doi: 10.2967/jnumed.117.197897. Epub 2017 Aug 17.

PMID:
28818988
26.

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

Schorling DC, Rost S, Lefeber DJ, Brady L, Müller CR, Korinthenberg R, Tarnopolsky M, Bönnemann CG, Rodenburg RJ, Bugiani M, Beytia M, Krüger M, van der Knaap M, Kirschner J.

Neurology. 2017 Aug 15;89(7):657-664. doi: 10.1212/WNL.0000000000004234. Epub 2017 Jul 21.

27.

Childhood white matter disorders: much more than just diseases of myelin.

Bugiani M, van der Knaap MS.

Acta Neuropathol. 2017 Sep;134(3):329-330. doi: 10.1007/s00401-017-1750-6. No abstract available.

PMID:
28725966
28.

Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model.

Bugiani M, Dubey M, Breur M, Postma NL, Dekker MP, Ter Braak T, Boschert U, Abbink TEM, Mansvelder HD, Min R, van Weering JRT, van der Knaap MS.

Ann Clin Transl Neurol. 2017 Jun 6;4(7):450-465. doi: 10.1002/acn3.405. eCollection 2017 Jul.

29.

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.

van der Knaap MS, Bugiani M.

Acta Neuropathol. 2017 Sep;134(3):351-382. doi: 10.1007/s00401-017-1739-1. Epub 2017 Jun 21. Review.

30.

No relationship between vertebral column shifts and limb fluctuating asymmetry in human foetuses.

Ten Broek CMA, Bots J, Bugiani M, Galis F, Van Dongen S.

PeerJ. 2017 Jun 12;5:e3359. doi: 10.7717/peerj.3359. eCollection 2017.

31.

Author response: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

van der Knaap MS, Bugiani M, Kevelam SH.

Neurology. 2017 May 2;88(18):1776. doi: 10.1212/WNL.0000000000003899. No abstract available.

PMID:
28461579
32.

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.

Duncan ID, Bugiani M, Radcliff AB, Moran JJ, Lopez-Anido C, Duong P, August BK, Wolf NI, van der Knaap MS, Svaren J.

Ann Neurol. 2017 May;81(5):690-702. doi: 10.1002/ana.24930. Epub 2017 May 9.

33.

Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss.

Görtz AL, Peferoen LAN, Gerritsen WH, van Noort JM, Bugiani M, Amor S.

Neuropathol Appl Neurobiol. 2018 Jun;44(4):363-376. doi: 10.1111/nan.12399. Epub 2017 Apr 26.

PMID:
28319253
34.

Alexander Disease.

Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver A.

J Child Neurol. 2017 Feb;32(2):184-187. doi: 10.1177/0883073816673263. Epub 2016 Oct 10.

PMID:
28112050
35.

Heat Shock Proteins: Old and Novel Roles in Neurodegenerative Diseases in the Central Nervous System.

van Noort JM, Bugiani M, Amor S.

CNS Neurol Disord Drug Targets. 2017;16(3):244-256. doi: 10.2174/1871527315666161031125317. Review.

PMID:
27804858
36.

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Bugiani M, Kevelam SH, Bakels HS, Waisfisz Q, Ceuterick-de Groote C, Niessen HW, Abbink TE, Lesnik Oberstein SA, van der Knaap MS.

Neurology. 2016 Oct 25;87(17):1777-1786. Epub 2016 Sep 24. Erratum in: Neurology. 2017 Jan 17;88(3):335.

PMID:
27664989
37.

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

van Rappard DF, Bugiani M, Boelens JJ, van der Steeg AF, Daams F, de Meij TG, van Doorn MM, van Hasselt PM, Gouma DJ, Verbeke JI, Hollak CE, van Hecke W, Salomons GS, van der Knaap MS, Wolf NI.

Neurology. 2016 Jul 5;87(1):103-11. doi: 10.1212/WNL.0000000000002811. Epub 2016 Jun 3.

PMID:
27261095
38.

Towards a formalin-free hospital. Levels of 15-F2t-isoprostane and malondialdehyde to monitor exposure to formaldehyde in nurses from operating theatres.

Bellisario V, Mengozzi G, Grignani E, Bugiani M, Sapino A, Bussolati G, Bono R.

Toxicol Res (Camb). 2016 Apr 26;5(4):1122-1129. doi: 10.1039/c6tx00068a. eCollection 2016 Jul 1.

39.

Astrocytes are central in the pathomechanisms of vanishing white matter.

Dooves S, Bugiani M, Postma NL, Polder E, Land N, Horan ST, van Deijk AL, van de Kreeke A, Jacobs G, Vuong C, Klooster J, Kamermans M, Wortel J, Loos M, Wisse LE, Scheper GC, Abbink TE, Heine VM, van der Knaap MS.

J Clin Invest. 2016 Apr 1;126(4):1512-24. doi: 10.1172/JCI83908. Epub 2016 Mar 14.

40.

Geo-climatic heterogeneity in self-reported asthma, allergic rhinitis and chronic bronchitis in Italy.

Pesce G, Bugiani M, Marcon A, Marchetti P, Carosso A, Accordini S, Antonicelli L, Cogliani E, Pirina P, Pocetta G, Spinelli F, Villani S, de Marco R.

Sci Total Environ. 2016 Feb 15;544:645-52. doi: 10.1016/j.scitotenv.2015.12.015. Epub 2015 Dec 10.

PMID:
26674694
41.

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

Kevelam SH, Klouwer FC, Fock JM, Salomons GS, Bugiani M, van der Knaap MS.

Neuropediatrics. 2016 Jan;47(1):64-7. doi: 10.1055/s-0035-1568987. Epub 2015 Nov 30.

PMID:
26619324
42.

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

van de Pol LA, Wolf NI, van Weissenbruch MM, Stam CJ, Weiss JM, Waisfisz Q, Kevelam SH, Bugiani M, van de Kamp JM, van der Knaap MS.

Neuropediatrics. 2015 Dec;46(6):392-400. doi: 10.1055/s-0035-1564791. Epub 2015 Nov 4.

PMID:
26535877
43.

Seventy Years of Asthma in Italy: Age, Period and Cohort Effects on Incidence and Remission of Self-Reported Asthma from 1940 to 2010.

Pesce G, Locatelli F, Cerveri I, Bugiani M, Pirina P, Johannessen A, Accordini S, Zanolin ME, Verlato G, de Marco R.

PLoS One. 2015 Oct 6;10(10):e0138570. doi: 10.1371/journal.pone.0138570. eCollection 2015. Erratum in: PLoS One. 2018 Jan 17;13(1):e0191589.

44.

Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

Klok MD, Bakels HS, Postma NL, van Spaendonk RM, van der Knaap MS, Bugiani M.

Ann Clin Transl Neurol. 2015 Jul;2(7):774-9. doi: 10.1002/acn3.213. Epub 2015 Jun 4.

45.

Lung function changes from childhood to adolescence: a seven-year follow-up study.

Piccioni P, Tassinari R, Carosso A, Carena C, Bugiani M, Bono R.

BMC Pulm Med. 2015 Apr 3;15:31. doi: 10.1186/s12890-015-0028-9.

46.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P.

Cerebellum. 2015 Jun;14(3):378-81. doi: 10.1007/s12311-014-0643-7. No abstract available.

PMID:
25592071
47.

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

Dalen Meurs-van der Schoor C, van Weissenbruch M, van Kempen M, Bugiani M, Aronica E, Ronner H, Vermeulen RJ.

Front Pediatr. 2014 Dec 19;2:136. doi: 10.3389/fped.2014.00136. eCollection 2014.

48.

Urban air and tobacco smoke as conditions that increase the risk of oxidative stress and respiratory response in youth.

Bono R, Tassinari R, Bellisario V, Gilli G, Pazzi M, Pirro V, Mengozzi G, Bugiani M, Piccioni P.

Environ Res. 2015 Feb;137:141-6. doi: 10.1016/j.envres.2014.12.008. Epub 2014 Dec 19.

PMID:
25531819
49.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER.

Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0.

50.

Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.

Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS.

Ann Neurol. 2015 Jan;77(1):114-31. doi: 10.1002/ana.24307. Epub 2014 Dec 4.

PMID:
25382142

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