Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 71

1.

Alpha-Synuclein Physiology and Pathology: A Perspective on Cellular Structures and Organelles.

Bernal-Conde LD, Ramos-Acevedo R, Reyes-Hernández MA, Balbuena-Olvera AJ, Morales-Moreno ID, Argüero-Sánchez R, Schüle B, Guerra-Crespo M.

Front Neurosci. 2020 Jan 23;13:1399. doi: 10.3389/fnins.2019.01399. eCollection 2019. Review.

2.

Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant.

da Costa Almeida CB, Welter AT, Abech GD, Brandão GR, Flores JAM, Schüle B, Francke U, Fiegenbaum M, Zen PRG, Rosa RFM.

J Pediatr Genet. 2020 Mar;9(1):58-62. doi: 10.1055/s-0039-1696636. Epub 2019 Sep 3.

PMID:
31976146
3.

Exosome/microvesicle content is altered in leucine-rich repeat kinase 2 mutant induced pluripotent stem cell-derived neural cells.

Candelario KM, Balaj L, Zheng T, Skog J, Scheffler B, Breakefield X, Schüle B, Steindler DA.

J Comp Neurol. 2020 May;528(7):1203-1215. doi: 10.1002/cne.24819. Epub 2019 Nov 30.

PMID:
31743443
4.

Increased markers of cardiac vagal activity in leucine-rich repeat kinase 2-associated Parkinson's disease.

Carricarte Naranjo C, Marras C, Visanji NP, Cornforth DJ, Sanchez-Rodriguez L, Schüle B, Goldman SM, Estévez M, Stein PK, Lang AE, Jelinek HF, Machado A.

Clin Auton Res. 2019 Dec;29(6):603-614. doi: 10.1007/s10286-019-00632-w. Epub 2019 Aug 23.

PMID:
31444591
5.

LRRK2 modifies α-syn pathology and spread in mouse models and human neurons.

Bieri G, Brahic M, Bousset L, Couthouis J, Kramer NJ, Ma R, Nakayama L, Monbureau M, Defensor E, Schüle B, Shamloo M, Melki R, Gitler AD.

Acta Neuropathol. 2019 Jun;137(6):961-980. doi: 10.1007/s00401-019-01995-0. Epub 2019 Mar 29.

6.

LRRK2-mediated Rab10 phosphorylation in immune cells from Parkinson's disease patients.

Atashrazm F, Hammond D, Perera G, Bolliger MF, Matar E, Halliday GM, Schüle B, Lewis SJG, Nichols RJ, Dzamko N.

Mov Disord. 2019 Mar;34(3):406-415. doi: 10.1002/mds.27601. Epub 2018 Dec 30.

PMID:
30597610
7.

A pathway for Parkinson's Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain.

Dhekne HS, Yanatori I, Gomez RC, Tonelli F, Diez F, Schüle B, Steger M, Alessi DR, Pfeffer SR.

Elife. 2018 Nov 6;7. pii: e40202. doi: 10.7554/eLife.40202.

8.

Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson's disease.

Zafar F, Valappil RA, Kim S, Johansen KK, Chang ALS, Tetrud JW, Eis PS, Hatchwell E, Langston JW, Dickson DW, Schüle B.

NPJ Parkinsons Dis. 2018 Jun 15;4:18. doi: 10.1038/s41531-018-0054-4. eCollection 2018.

9.

Advancing Stem Cell Models of Alpha-Synuclein Gene Regulation in Neurodegenerative Disease.

Piper DA, Sastre D, Schüle B.

Front Neurosci. 2018 Apr 9;12:199. doi: 10.3389/fnins.2018.00199. eCollection 2018. Review.

10.

Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study.

Mestre TA, Pont-Sunyer C, Kausar F, Visanji NP, Ghate T, Connolly BS, Gasca-Salas C, Kern DS, Jain J, Slow EJ, Faust-Socher A, Kasten M, Wadia PM, Zadikoff C, Kumar P, de Bie RM, Thomsen T, Lang AE, Schüle B, Klein C, Tolosa E, Marras C.

Mov Disord. 2018 Jul;33(6):960-965. doi: 10.1002/mds.27272. Epub 2018 Apr 17.

PMID:
29665080
11.

LRRK2 p.Ile1371Val Mutation in a Case with Neuropathologically Confirmed Multi-System Atrophy.

Lee K, Nguyen KD, Sun C, Liu M, Zafar F, Saetern J, Flierl A, Tetrud JW, Langston JW, Dickson D, Schüle B.

J Parkinsons Dis. 2018;8(1):93-100. doi: 10.3233/JPD-171237. Review.

PMID:
29480226
12.

LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease.

Howlett EH, Jensen N, Belmonte F, Zafar F, Hu X, Kluss J, Schüle B, Kaufman BA, Greenamyre JT, Sanders LH.

Hum Mol Genet. 2017 Nov 15;26(22):4340-4351. doi: 10.1093/hmg/ddx320.

13.

Parkinson's disease associated with pure ATXN10 repeat expansion.

Schüle B, McFarland KN, Lee K, Tsai YC, Nguyen KD, Sun C, Liu M, Byrne C, Gopi R, Huang N, Langston JW, Clark T, Gil FJJ, Ashizawa T.

NPJ Parkinsons Dis. 2017 Sep 5;3:27. doi: 10.1038/s41531-017-0029-x. eCollection 2017.

14.

β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease.

Mittal S, Bjørnevik K, Im DS, Flierl A, Dong X, Locascio JJ, Abo KM, Long E, Jin M, Xu B, Xiang YK, Rochet JC, Engeland A, Rizzu P, Heutink P, Bartels T, Selkoe DJ, Caldarone BJ, Glicksman MA, Khurana V, Schüle B, Park DS, Riise T, Scherzer CR.

Science. 2017 Sep 1;357(6354):891-898. doi: 10.1126/science.aaf3934.

15.

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, Foroud T, Berg D, Brockmann K, Goldwurm S, Siri C, Asselta R, Ruiz-Martinez J, Mondragón E, Marras C, Ghate T, Giladi N, Mirelman A, Marder K; Michael J. Fox LRRK2 Cohort Consortium.

Mov Disord. 2017 Oct;32(10):1432-1438. doi: 10.1002/mds.27059. Epub 2017 Jun 22.

16.

Derivation of Leptomeninges Explant Cultures from Postmortem Human Brain Donors.

Lee K, Saetern OC, Nguyen A, Rodriguez L, Schüle B.

J Vis Exp. 2017 Jan 21;(119). doi: 10.3791/55045.

17.

Inflammatory profile discriminates clinical subtypes in LRRK2-associated Parkinson's disease.

Brockmann K, Schulte C, Schneiderhan-Marra N, Apel A, Pont-Sunyer C, Vilas D, Ruiz-Martinez J, Langkamp M, Corvol JC, Cormier F, Knorpp T, Joos TO, Bernard A, Gasser T, Marras C, Schüle B, Aasly JO, Foroud T, Marti-Masso JF, Brice A, Tolosa E, Berg D, Maetzler W.

Eur J Neurol. 2017 Feb;24(2):427-e6. doi: 10.1111/ene.13223.

PMID:
28102045
18.

Heart rate variability in leucine-rich repeat kinase 2-associated Parkinson's disease.

Visanji NP, Bhudhikanok GS, Mestre TA, Ghate T, Udupa K, AlDakheel A, Connolly BS, Gasca-Salas C, Kern DS, Jain J, Slow EJ, Faust-Socher A, Kim S, Azhu Valappil R, Kausar F, Rogaeva E, William Langston J, Tanner CM, Schüle B, Lang AE, Goldman SM, Marras C.

Mov Disord. 2017 Apr;32(4):610-614. doi: 10.1002/mds.26896. Epub 2017 Jan 10.

PMID:
28071824
19.

Functional Impairment in Miro Degradation and Mitophagy Is a Shared Feature in Familial and Sporadic Parkinson's Disease.

Hsieh CH, Shaltouki A, Gonzalez AE, Bettencourt da Cruz A, Burbulla LF, St Lawrence E, Schüle B, Krainc D, Palmer TD, Wang X.

Cell Stem Cell. 2016 Dec 1;19(6):709-724. doi: 10.1016/j.stem.2016.08.002. Epub 2016 Sep 8.

20.

Inflammatory profile in LRRK2-associated prodromal and clinical PD.

Brockmann K, Apel A, Schulte C, Schneiderhan-Marra N, Pont-Sunyer C, Vilas D, Ruiz-Martinez J, Langkamp M, Corvol JC, Cormier F, Knorpp T, Joos TO, Gasser T, Schüle B, Aasly JO, Foroud T, Marti-Masso JF, Brice A, Tolosa E, Marras C, Berg D, Maetzler W.

J Neuroinflammation. 2016 May 24;13(1):122. doi: 10.1186/s12974-016-0588-5.

21.

Is PARKIN parkinsonism a cancer predisposition syndrome?

Schüle B, Byrne C, Rees L, Langston JW.

Neurol Genet. 2015 Oct 15;1(4):e31. doi: 10.1212/NXG.0000000000000031. eCollection 2015 Dec.

22.

Erratum: Multisystem Lewy body disease and the other parkinsonian disorders.

Langston JW, Schüle B, Rees L, Nichols RJ, Barlow C.

Nat Genet. 2016 Apr;48(4):473. doi: 10.1038/ng0329-473b. No abstract available.

PMID:
27023778
23.

Multisystem Lewy body disease and the other parkinsonian disorders.

Langston JW, Schüle B, Rees L, Nichols RJ, Barlow C.

Nat Genet. 2015 Dec;47(12):1378-84. doi: 10.1038/ng.3454. Erratum in: Nat Genet. 2016 Apr;48(4):473.

PMID:
26620112
24.

Elevated α-synuclein caused by SNCA gene triplication impairs neuronal differentiation and maturation in Parkinson's patient-derived induced pluripotent stem cells.

Oliveira LM, Falomir-Lockhart LJ, Botelho MG, Lin KH, Wales P, Koch JC, Gerhardt E, Taschenberger H, Outeiro TF, Lingor P, Schüle B, Arndt-Jovin DJ, Jovin TM.

Cell Death Dis. 2015 Nov 26;6:e1994. doi: 10.1038/cddis.2015.318.

25.

Comparative genomic hybridization solves a 14-year-old PARKIN mystery.

Schüle B, Hatchwell E, Eis PS, Langston JW.

Ann Neurol. 2015 Oct;78(4):663-4. doi: 10.1002/ana.24478. Epub 2015 Aug 29. No abstract available.

PMID:
26179350
26.

Discovery of functional non-coding conserved regions in the α-synuclein gene locus.

Sterling L, Walter M, Ting D, Schüle B.

Version 2. F1000Res. 2014 Oct 29 [revised 2014 Jan 1];3:259. doi: 10.12688/f1000research.3281.2. eCollection 2014.

27.

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martínez J, Marti-Masso JF, Ferrer I, López de Munain A, Goldman SM, Schüle B, Langston JW, Aasly JO, Giordana MT, Bonifati V, Puschmann A, Canesi M, Pezzoli G, Maues De Paula A, Hasegawa K, Duyckaerts C, Brice A, Stoessl AJ, Marras C.

JAMA Neurol. 2015 Jan;72(1):100-5. doi: 10.1001/jamaneurol.2014.2704.

28.

Higher vulnerability and stress sensitivity of neuronal precursor cells carrying an alpha-synuclein gene triplication.

Flierl A, Oliveira LM, Falomir-Lockhart LJ, Mak SK, Hesley J, Soldner F, Arndt-Jovin DJ, Jaenisch R, Langston JW, Jovin TM, Schüle B.

PLoS One. 2014 Nov 12;9(11):e112413. doi: 10.1371/journal.pone.0112413. eCollection 2014.

29.

Systems-based analyses of brain regions functionally impacted in Parkinson's disease reveals underlying causal mechanisms.

Riley BE, Gardai SJ, Emig-Agius D, Bessarabova M, Ivliev AE, Schüle B, Alexander J, Wallace W, Halliday GM, Langston JW, Braxton S, Yednock T, Shaler T, Johnston JA.

PLoS One. 2014 Aug 29;9(8):e102909. doi: 10.1371/journal.pone.0102909. eCollection 2014. Erratum in: PLoS One. 2014;9(12):e115081. Schüle, Birgit [corrected to Schüle, Birgitt].

30.

Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants.

Alcalay RN, Aasly J, Berg D, Bressman S, Brice A, Brockmann K, Chan P, Clark L, Cormier F, Corvol JC, Durr A, Facheris M, Farrer M, Foroud TM, Gasser T, Giladi N, Halter C, Lang A, Langston JW, Marras C, Marti-Masso JF, Ruiz Martinez J, Mejia-Santana H, Mirelman A, Pont-Sunyer C, Orr-Urtreger A, Raymond D, Saunders-Pullman R, Schüle B, Tanner C, Tolosa E, Urkowitz A, Vilas D, Wise A, Marder K.

Genet Med. 2014 Aug;16(8):644-5. doi: 10.1038/gim.2014.55. No abstract available.

31.

DICE, an efficient system for iterative genomic editing in human pluripotent stem cells.

Zhu F, Gamboa M, Farruggio AP, Hippenmeyer S, Tasic B, Schüle B, Chen-Tsai Y, Calos MP.

Nucleic Acids Res. 2014 Mar;42(5):e34. doi: 10.1093/nar/gkt1290. Epub 2013 Dec 4.

32.

Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons.

Chung CY, Khurana V, Auluck PK, Tardiff DF, Mazzulli JR, Soldner F, Baru V, Lou Y, Freyzon Y, Cho S, Mungenast AE, Muffat J, Mitalipova M, Pluth MD, Jui NT, Schüle B, Lippard SJ, Tsai LH, Krainc D, Buchwald SL, Jaenisch R, Lindquist S.

Science. 2013 Nov 22;342(6161):983-7. doi: 10.1126/science.1245296. Epub 2013 Oct 24.

33.

LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson's disease patients: reversal by gene correction.

Sanders LH, Laganière J, Cooper O, Mak SK, Vu BJ, Huang YA, Paschon DE, Vangipuram M, Sundararajan R, Urnov FD, Langston JW, Gregory PD, Zhang HS, Greenamyre JT, Isacson O, Schüle B.

Neurobiol Dis. 2014 Feb;62:381-6. doi: 10.1016/j.nbd.2013.10.013. Epub 2013 Oct 19.

34.

Elevated alpha-synuclein impairs innate immune cell function and provides a potential peripheral biomarker for Parkinson's disease.

Gardai SJ, Mao W, Schüle B, Babcock M, Schoebel S, Lorenzana C, Alexander J, Kim S, Glick H, Hilton K, Fitzgerald JK, Buttini M, Chiou SS, McConlogue L, Anderson JP, Schenk DB, Bard F, Langston JW, Yednock T, Johnston JA.

PLoS One. 2013 Aug 23;8(8):e71634. doi: 10.1371/journal.pone.0071634. eCollection 2013.

35.

Skin punch biopsy explant culture for derivation of primary human fibroblasts.

Vangipuram M, Ting D, Kim S, Diaz R, Schüle B.

J Vis Exp. 2013 Jul 7;(77):e3779. doi: 10.3791/3779.

36.

Small molecules greatly improve conversion of human-induced pluripotent stem cells to the neuronal lineage.

Mak SK, Huang YA, Iranmanesh S, Vangipuram M, Sundararajan R, Nguyen L, Langston JW, Schüle B.

Stem Cells Int. 2012;2012:140427. doi: 10.1155/2012/140427. Epub 2012 Apr 10.

37.

SNCA triplication Parkinson's patient's iPSC-derived DA neurons accumulate α-synuclein and are susceptible to oxidative stress.

Byers B, Cord B, Nguyen HN, Schüle B, Fenno L, Lee PC, Deisseroth K, Langston JW, Pera RR, Palmer TD.

PLoS One. 2011;6(11):e26159. doi: 10.1371/journal.pone.0026159. Epub 2011 Nov 16.

38.

Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers.

Marras C, Schüle B, Munhoz RP, Rogaeva E, Langston JW, Kasten M, Meaney C, Klein C, Wadia PM, Lim SY, Chuang RS, Zadikof C, Steeves T, Prakash KM, de Bie RM, Adeli G, Thomsen T, Johansen KK, Teive HA, Asante A, Reginold W, Lang AE.

Neurology. 2011 Jul 26;77(4):325-33. doi: 10.1212/WNL.0b013e318227042d. Epub 2011 Jul 13. Erratum in: Neurology. 2011 Oct 11;77(15):1501. Schuele, B [corrected to Schüle, B].

39.

Call for participation in the neurogenetics consortium within the Human Variome Project.

Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ.

Neurogenetics. 2011 Aug;12(3):169-73. doi: 10.1007/s10048-011-0287-4. Epub 2011 Jun 1.

PMID:
21630033
40.

LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress.

Nguyen HN, Byers B, Cord B, Shcheglovitov A, Byrne J, Gujar P, Kee K, Schüle B, Dolmetsch RE, Langston W, Palmer TD, Pera RR.

Cell Stem Cell. 2011 Mar 4;8(3):267-80. doi: 10.1016/j.stem.2011.01.013.

41.

Mitochondrial dysfunction in skin fibroblasts from a Parkinson's disease patient with an alpha-synuclein triplication.

Mak SK, Tewari D, Tetrud JW, Langston JW, Schüle B.

J Parkinsons Dis. 2011;1(2):175-83. doi: 10.3233/JPD-2011-11025.

PMID:
23934919
42.

Can cellular models revolutionize drug discovery in Parkinson's disease?

Schüle B, Pera RA, Langston JW.

Biochim Biophys Acta. 2009 Nov;1792(11):1043-51. doi: 10.1016/j.bbadis.2009.08.014. Epub 2009 Sep 3. Review.

43.

Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.

Manning-Boğ AB, Schüle B, Langston JW.

Neurotoxicology. 2009 Nov;30(6):1127-32. doi: 10.1016/j.neuro.2009.06.009. Epub 2009 Jul 2.

PMID:
19576930
44.

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Schüle B, Armstrong DD, Vogel H, Oviedo A, Francke U.

Clin Genet. 2008 Aug;74(2):116-26. doi: 10.1111/j.1399-0004.2008.01005.x. Epub 2008 May 8. Review.

PMID:
18477000
45.

Pure akinesia as initial presentation of PSP: a clinicopathological study.

Facheris MF, Maniak S, Scaravilli F, Schüle B, Klein C, Pramstaller PP.

Parkinsonism Relat Disord. 2008 Aug;14(6):517-9. doi: 10.1016/j.parkreldis.2007.11.004. Epub 2008 Mar 5.

PMID:
18325816
46.

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S.

Mov Disord. 2008 Mar 15;23(4):588-92. doi: 10.1002/mds.21785.

PMID:
18175340
47.

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.

Schüle B, Li HH, Fisch-Kohl C, Purmann C, Francke U.

Am J Hum Genet. 2007 Sep;81(3):492-506. Epub 2007 Aug 2.

48.

Parkin gene variations and parkinsonism: association does not imply causation.

Langston JW, Tanner CM, Schüle B.

Ann Neurol. 2007 Jan;61(1):4-6. No abstract available.

PMID:
17262853
49.

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schüle B, Langston JW, Middleton FA, Ross OA, Hulihan M, Gasser T, Farrer MJ.

Neurology. 2007 Mar 20;68(12):916-22. Epub 2007 Jan 24.

PMID:
17251522
50.

Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.

Doostzadeh J, Tetrud JW, Allen-Auerbach M, Langston JW, Schüle B.

Parkinsonism Relat Disord. 2007 Aug;13(6):359-61. Epub 2006 Oct 19.

PMID:
17055324

Supplemental Content

Loading ...
Support Center