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Items: 1 to 50 of 205

1.

Family History is Associated with Phenotype in Dementia with Lewy Bodies.

Vergouw LJM, Bosman B, van de Beek M, Salomé M, Hoogers SE, van Steenoven I, Roks G, Bonifati V, van Swieten JC, Lemstra AW, de Jong FJ.

J Alzheimers Dis. 2020;73(1):269-275. doi: 10.3233/JAD-190825.

2.

Primary familial brain calcification caused by MYORG mutations in an Italian family.

Taglia I, Kuipers DJS, Breedveld GJ, Mignarri A, Dotti MT, Federico A, Bonifati V.

Parkinsonism Relat Disord. 2019 Oct;67:24-26. doi: 10.1016/j.parkreldis.2019.09.021. Epub 2019 Sep 17. No abstract available.

PMID:
31621601
3.

Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.

Kuipers DJS, Tufekcioglu Z, Bilgiç B, Olgiati S, Dremmen MHG, van IJcken WFJ, Breedveld GJ, Mancini GMS, Hanagasi HA, Emre M, Bonifati V.

Parkinsonism Relat Disord. 2019 Sep;66:228-231. doi: 10.1016/j.parkreldis.2019.07.033. Epub 2019 Jul 31.

PMID:
31431325
4.

Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study.

Puschmann A, Jiménez-Ferrer I, Lundblad-Andersson E, Mårtensson E, Hansson O, Odin P, Widner H, Brolin K, Mzezewa R, Kristensen J, Soller M, Rödström EY, Ross OA, Toft M, Breedveld GJ, Bonifati V, Brodin L, Zettergren A, Sydow O, Linder J, Wirdefeldt K, Svenningsson P, Nissbrandt H, Belin AC, Forsgren L, Swanberg M.

Parkinsonism Relat Disord. 2019 Sep;66:158-165. doi: 10.1016/j.parkreldis.2019.07.032. Epub 2019 Jul 31.

5.

PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts.

Amodio G, Moltedo O, Fasano D, Zerillo L, Oliveti M, Di Pietro P, Faraonio R, Barone P, Pellecchia MT, De Rosa A, De Michele G, Polishchuk E, Polishchuk R, Bonifati V, Nitsch L, Pierantoni GM, Renna M, Criscuolo C, Paladino S, Remondelli P.

Front Neurosci. 2019 Jun 27;13:673. doi: 10.3389/fnins.2019.00673. eCollection 2019.

6.

Lewy pathology in Parkinson's disease consists of crowded organelles and lipid membranes.

Shahmoradian SH, Lewis AJ, Genoud C, Hench J, Moors TE, Navarro PP, Castaño-Díez D, Schweighauser G, Graff-Meyer A, Goldie KN, Sütterlin R, Huisman E, Ingrassia A, Gier Y, Rozemuller AJM, Wang J, Paepe A, Erny J, Staempfli A, Hoernschemeyer J, Großerüschkamp F, Niedieker D, El-Mashtoly SF, Quadri M, Van IJcken WFJ, Bonifati V, Gerwert K, Bohrmann B, Frank S, Britschgi M, Stahlberg H, Van de Berg WDJ, Lauer ME.

Nat Neurosci. 2019 Jul;22(7):1099-1109. doi: 10.1038/s41593-019-0423-2. Epub 2019 Jun 24.

PMID:
31235907
7.

Parkinson's disease protein DJ-1 regulates ATP synthase protein components to increase neuronal process outgrowth.

Chen R, Park HA, Mnatsakanyan N, Niu Y, Licznerski P, Wu J, Miranda P, Graham M, Tang J, Boon AJW, Cossu G, Mandemakers W, Bonifati V, Smith PJS, Alavian KN, Jonas EA.

Cell Death Dis. 2019 Jun 13;10(6):469. doi: 10.1038/s41419-019-1679-x.

8.

LRP10 variants in Parkinson's disease and dementia with Lewy bodies in the South-West of the Netherlands.

Vergouw LJM, Ruitenberg A, Wong TH, Melhem S, Breedveld GJ, Criscuolo C, De Michele G, de Jong FJ, Bonifati V, van Swieten JC, Quadri M.

Parkinsonism Relat Disord. 2019 Aug;65:243-247. doi: 10.1016/j.parkreldis.2019.05.037. Epub 2019 May 25.

PMID:
31147221
9.

How Do I Assess a Family Tree for Inheritance Patterns?

Kievit A, Bonifati V.

Mov Disord Clin Pract. 2018 Aug 3;5(4):453. doi: 10.1002/mdc3.12661. eCollection 2018 Jul-Aug.

10.

Neuropathological and genetic characteristics of a post-mortem series of cases with dementia with Lewy bodies clinically suspected of Creutzfeldt-Jakob's disease.

Geut H, Vergouw LJM, Galis Y, Ingrassia A, de Jong FJ, Quadri M, Bonifati V, Lemstra AW, Rozemuller AJM, van de Berg WDJ.

Parkinsonism Relat Disord. 2019 Jun;63:162-168. doi: 10.1016/j.parkreldis.2019.02.011. Epub 2019 Feb 13.

PMID:
30777654
11.

LRP10 in α-synucleinopathies - Authors' reply.

Quadri M, Mandemakers W, Kuipers D, Breedveld GJ, Bonifati V.

Lancet Neurol. 2018 Dec;17(12):1035-1036. doi: 10.1016/S1474-4422(18)30408-3. Epub 2018 Nov 13. No abstract available.

PMID:
30507388
12.

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability.

Kuipers DJS, Carr J, Bardien S, Thomas P, Sebate B, Breedveld GJ, van Minkelen R, Brouwer RWW, van Ijcken WFJ, van Slegtenhorst MA, Bonifati V, Quadri M.

Mov Disord. 2018 Nov;33(11):1814-1819. doi: 10.1002/mds.27501. Epub 2018 Nov 6.

PMID:
30398675
13.

Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.

Moors TE, Paciotti S, Ingrassia A, Quadri M, Breedveld G, Tasegian A, Chiasserini D, Eusebi P, Duran-Pacheco G, Kremer T, Calabresi P, Bonifati V, Parnetti L, Beccari T, van de Berg WDJ.

Mol Neurobiol. 2019 Feb;56(2):1344-1355. doi: 10.1007/s12035-018-1090-0. Epub 2018 Jun 8.

14.

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.

Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, Criscuolo C, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V; International Parkinsonism Genetics Network.

Lancet Neurol. 2018 Jul;17(7):597-608. doi: 10.1016/S1474-4422(18)30179-0. Epub 2018 Jun 7. Erratum in: Lancet Neurol. 2020 Feb;19(2):e2.

PMID:
29887161
15.

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA.

Neurol Genet. 2018 Mar 21;4(2):e223. doi: 10.1212/NXG.0000000000000223. eCollection 2018 Apr.

16.

Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.

Fasano D, Parisi S, Pierantoni GM, De Rosa A, Picillo M, Amodio G, Pellecchia MT, Barone P, Moltedo O, Bonifati V, De Michele G, Nitsch L, Remondelli P, Criscuolo C, Paladino S.

Cell Death Dis. 2018 Mar 7;9(3):385. doi: 10.1038/s41419-018-0410-7.

17.

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V; GROUP Study Consortium, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA.

Mol Psychiatry. 2019 May;24(5):757-771. doi: 10.1038/s41380-017-0004-2. Epub 2018 Jan 4.

18.

The beginning of our new journey.

Bonifati V, Fernandez HH.

Parkinsonism Relat Disord. 2018 Jan;46:2. doi: 10.1016/j.parkreldis.2017.12.028. No abstract available.

PMID:
29295734
19.

Correction: Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles.

Pinho R, Guedes LC, Soreq L, Lobo PP, Mestre T, Coelho M, Rosa MM, Gonçalves N, Wales P, Mendes T, Gerhardt E, Fahlbusch C, Bonifati V, Bonin M, Miltenberger-Miltényi G, Borovecki F, Soreq H, Ferreira JJ, Outeiro TF.

PLoS One. 2017 Dec 28;12(12):e0190552. doi: 10.1371/journal.pone.0190552. eCollection 2017.

20.

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.

Bouwkamp CG, Kievit AJA, Markx S, Friedman JI, van Zutven L, van Minkelen R, Vrijenhoek T, Xu B, Sterrenburg-van de Nieuwegiessen I, Veltman JA, Bonifati V, Kushner SA.

Am J Psychiatry. 2017 Nov 1;174(11):1036-1050. doi: 10.1176/appi.ajp.2017.16080946. No abstract available.

PMID:
29088930
21.

Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy.

Obeso JA, Stamelou M, Goetz CG, Poewe W, Lang AE, Weintraub D, Burn D, Halliday GM, Bezard E, Przedborski S, Lehericy S, Brooks DJ, Rothwell JC, Hallett M, DeLong MR, Marras C, Tanner CM, Ross GW, Langston JW, Klein C, Bonifati V, Jankovic J, Lozano AM, Deuschl G, Bergman H, Tolosa E, Rodriguez-Violante M, Fahn S, Postuma RB, Berg D, Marek K, Standaert DG, Surmeier DJ, Olanow CW, Kordower JH, Calabresi P, Schapira AHV, Stoessl AJ.

Mov Disord. 2017 Sep;32(9):1264-1310. doi: 10.1002/mds.27115. Review.

22.

An update on the genetics of dementia with Lewy bodies.

Vergouw LJM, van Steenoven I, van de Berg WDJ, Teunissen CE, van Swieten JC, Bonifati V, Lemstra AW, de Jong FJ.

Parkinsonism Relat Disord. 2017 Oct;43:1-8. doi: 10.1016/j.parkreldis.2017.07.009. Epub 2017 Jul 13. Review.

PMID:
28734699
23.

Neuromelanin magnetic resonance imaging of the substantia nigra in LRRK2-related Parkinson's disease.

Correia Guedes L, Reimão S, Paulino P, Nunes RG, Bouça-Machado R, Abreu D, Gonçalves N, Soares T, Fabbri M, Godinho C, Pita Lobo P, Neutel D, Quadri M, Coelho M, Rosa MM, Campos J, Outeiro TF, Sampaio C, Bonifati V, Ferreira JJ.

Mov Disord. 2017 Sep;32(9):1331-1333. doi: 10.1002/mds.27083. Epub 2017 Jul 7. No abstract available.

PMID:
28686310
24.

TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?

Mandemakers W, Quadri M, Stamelou M, Bonifati V.

Mov Disord. 2017 Aug;32(8):1159-1162. doi: 10.1002/mds.27061. Epub 2017 Jun 1. Review.

PMID:
28568905
25.

Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia.

Jain P, Sharma S, Breedveld G, Bonifati V, Aneja S.

J Pediatr Neurosci. 2017 Jan-Mar;12(1):112-113. doi: 10.4103/jpn.JPN_148_16. No abstract available.

26.

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.

Terlizzi R, Valentino ML, Bartoletti-Stella A, Columbaro M, Piras S, Stanzani-Maserati M, Quadri M, Breedveld GJ, Bonifati V, Martinelli P, Parchi P, Capellari S.

Mov Disord. 2017 Aug;32(8):1259-1260. doi: 10.1002/mds.27049. Epub 2017 May 22. No abstract available.

PMID:
28543767
27.

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.

Olgiati S, Doğu O, Tufekcioglu Z, Diler Y, Saka E, Gultekin M, Kaleagasi H, Kuipers D, Graafland J, Breedveld GJ, Quadri M, Sürmeli R, Sünter G, Doğan T, Yalçın AD, Bilgiç B, Elibol B, Emre M, Hanagasi HA, Bonifati V.

Parkinsonism Relat Disord. 2017 Jun;39:64-70. doi: 10.1016/j.parkreldis.2017.03.012. Epub 2017 Mar 21.

PMID:
28347615
28.

The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.

Vanhauwaert R, Kuenen S, Masius R, Bademosi A, Manetsberger J, Schoovaerts N, Bounti L, Gontcharenko S, Swerts J, Vilain S, Picillo M, Barone P, Munshi ST, de Vrij FM, Kushner SA, Gounko NV, Mandemakers W, Bonifati V, Meunier FA, Soukup SF, Verstreken P.

EMBO J. 2017 May 15;36(10):1392-1411. doi: 10.15252/embj.201695773. Epub 2017 Mar 22.

29.

Mutations in TMEM230 are not a common cause of Parkinson's disease.

Quadri M, Breedveld GJ, Chang HC, Yeh TH, Guedes LC, Toni V, Fabrizio E, De Mari M, Thomas A, Tassorelli C, Rood JP, Saddi V, Chien HF, Kievit AJ, Boon AJ, Stocchi F, Lopiano L, Abbruzzese G, Cortelli P, Meco G, Cossu G, Barbosa ER, Ferreira JJ; International Parkinsonism Genetics Network, Lu CS, Bonifati V.

Mov Disord. 2017 Feb;32(2):302-304. doi: 10.1002/mds.26900. Epub 2017 Jan 16. No abstract available.

PMID:
28090676
30.

Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes.

Bonifati V.

Mov Disord Clin Pract. 2016 Oct 17;4(1):36-38. doi: 10.1002/mdc3.12438. eCollection 2017 Jan-Feb. No abstract available.

31.

Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles.

Pinho R, Guedes LC, Soreq L, Lobo PP, Mestre T, Coelho M, Rosa MM, Gonçalves N, Wales P, Mendes T, Gerhardt E, Fahlbusch C, Bonifati V, Bonin M, Miltenberger-Miltényi G, Borovecki F, Soreq H, Ferreira JJ, F Outeiro T.

PLoS One. 2016 Jun 20;11(6):e0157852. doi: 10.1371/journal.pone.0157852. eCollection 2016. Erratum in: PLoS One. 2017 Dec 28;12 (12 ):e0190552.

32.

A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis.

Bouwkamp CG, Kievit AJ, Olgiati S, Breedveld GJ, Coesmans M, Bonifati V, Kushner SA.

Am J Med Genet B Neuropsychiatr Genet. 2017 Apr;174(3):214-219. doi: 10.1002/ajmg.b.32465. Epub 2016 Jun 3.

33.

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V.

Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19.

PMID:
27090768
34.

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

Quadri M, Olgiati S, Sensi M, Gualandi F, Groppo E, Rispoli V, Graafland J, Breedveld GJ, Fabbrini G, Berardelli A, Bonifati V.

Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17. No abstract available.

PMID:
26990861
35.

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.

Aerts MB, Weterman MA, Quadri M, Schelhaas HJ, Bloem BR, Esselink RA, Baas F, Bonifati V, van de Warrenburg BP.

Ann Clin Transl Neurol. 2015 Dec 22;3(2):146-9. doi: 10.1002/acn3.281. eCollection 2016 Feb.

36.

Genetics of movement disorders in the next-generation sequencing era.

Olgiati S, Quadri M, Bonifati V.

Mov Disord. 2016 Apr;31(4):458-70. doi: 10.1002/mds.26521. Epub 2016 Feb 22. Review.

PMID:
26899883
37.

Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.

De Rosa A, Pellegrino T, Pappatà S, Lieto M, Bonifati V, Palma V, Topa A, Santoro L, Bilo L, Cuocolo A, De Michele G.

Parkinsonism Relat Disord. 2016 Feb;23:102-5. doi: 10.1016/j.parkreldis.2015.12.006. Epub 2015 Dec 18.

PMID:
26725142
38.

Reply.

Olgiati S, Quadri M, Mandemakers W, Bonifati V.

Ann Neurol. 2016 Feb;79(2):337-8. doi: 10.1002/ana.24587. Epub 2016 Jan 19. No abstract available.

PMID:
26702604
39.

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network, Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V.

Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14.

PMID:
26528954
40.

Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers.

Picillo M, De Rosa A, Pellecchia MT, Criscuolo C, Amboni M, Erro R, Bonifati V, De Michele G, Barone P.

Mov Disord Clin Pract. 2015 Jul 25;2(4):413-416. doi: 10.1002/mdc3.12183. eCollection 2015 Dec.

41.

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.

Olgiati S, Thomas A, Quadri M, Breedveld GJ, Graafland J, Eussen H, Douben H, de Klein A, Onofrj M, Bonifati V.

Parkinsonism Relat Disord. 2015 Aug;21(8):981-6. doi: 10.1016/j.parkreldis.2015.06.005. Epub 2015 Jun 9.

42.

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

Quadri M, Kamate M, Sharma S, Olgiati S, Graafland J, Breedveld GJ, Kori I, Hattiholi V, Jain P, Aneja S, Kumar A, Gulati P, Goel M, Talukdar B, Bonifati V.

Mov Disord. 2015 Jun;30(7):996-1001. doi: 10.1002/mds.26202. Epub 2015 Mar 17.

PMID:
25778823
43.

Primary familial brain calcification: update on molecular genetics.

Taglia I, Bonifati V, Mignarri A, Dotti MT, Federico A.

Neurol Sci. 2015 May;36(5):787-94. doi: 10.1007/s10072-015-2110-8. Epub 2015 Feb 17.

PMID:
25686613
44.

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.

Lewthwaite AJ, Lambert TD, Rolfe EB, Olgiati S, Quadri M, Simons EJ, Morrison KE, Bonifati V, Nicholl DJ.

Parkinsonism Relat Disord. 2015 Apr;21(4):394-7. doi: 10.1016/j.parkreldis.2015.01.004. Epub 2015 Jan 14.

45.

Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease.

Wong TH, Verkerk AJ, Rozemuller AJ, Willemsen R, Neumann M, Bonifati V, van Swieten J.

Brain. 2015 Jun;138(Pt 6):e358. doi: 10.1093/brain/awu333. Epub 2014 Nov 19. No abstract available.

46.

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.

47.

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.

Quadri M, Yang X, Cossu G, Olgiati S, Saddi VM, Breedveld GJ, Ouyang L, Hu J, Xu N, Graafland J, Ricchi V, Murgia D, Guedes LC, Mariani C, Marti MJ, Tarantino P, Asselta R, Valldeoriola F, Gagliardi M, Pezzoli G, Ezquerra M, Quattrone A, Ferreira J, Annesi G, Goldwurm S, Tolosa E, Oostra BA, Melis M, Wang J, Bonifati V.

Neurogenetics. 2015 Jan;16(1):55-64. doi: 10.1007/s10048-014-0425-x. Epub 2014 Oct 8.

PMID:
25294124
48.

Primary familial brain calcification: Genetic analysis and clinical spectrum.

Taglia I, Mignarri A, Olgiati S, Menci E, Petrocelli PL, Breedveld GJ, Scaglione C, Martinelli P, Federico A, Bonifati V, Dotti MT.

Mov Disord. 2014 Nov;29(13):1691-5. doi: 10.1002/mds.26053. Epub 2014 Oct 4. Erratum in: Mov Disord. 2015 Jun;30(7):1010.

PMID:
25284758
49.

A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism.

Yalcin-Cakmakli G, Olgiati S, Quadri M, Breedveld GJ, Cortelli P, Bonifati V, Elibol B.

Parkinsonism Relat Disord. 2014 Nov;20(11):1248-52. doi: 10.1016/j.parkreldis.2014.06.024. Epub 2014 Jul 22.

PMID:
25085748
50.

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.

Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappatà S, Quarantelli M, Barone P, De Michele G, Bonifati V.

Neurogenetics. 2014 Aug;15(3):183-8. doi: 10.1007/s10048-014-0406-0. Epub 2014 May 10.

PMID:
24816432

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