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Items: 1 to 50 of 75

1.

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.

2.

[Screening instruments: more light than shade].

Hasenbring MI, Levenig C, Hallner D, Puschmann AK, Weiffen A, Kleinert J, Belz J, Schiltenwolf M, Pfeifer AC, Heidari J, Kellmann M, Wippert PM.

Schmerz. 2018 Dec;32(6):479-482. doi: 10.1007/s00482-018-0340-4. German. No abstract available.

PMID:
30406294
3.

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Gorcenco S, Vaz FM, Tracewska-Siemiatkowska A, Tranebjærg L, Cremers FPM, Ygland E, Kicsi J, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Puschmann A.

Parkinsonism Relat Disord. 2019 Apr;61:245-247. doi: 10.1016/j.parkreldis.2018.10.017. Epub 2018 Oct 15. No abstract available.

PMID:
30343981
4.

Tidig diagnos och behandling med gallsyra avgörande vid cerebrotendinös xantomatos.

Eggertsen G, Puschmann A, Hall S, Wärme AK, Kvorning O, Olin M, Eriksson M, Björkhem I.

Lakartidningen. 2018 Sep 20;115. pii: E9YY. Swedish. No abstract available.

5.

Will FTLD-tau work for all when FTDP-17 retires?

Ygland E, Landqvist Waldö M, Englund E, Puschmann A, Nilsson C.

Brain. 2018 Aug 1;141(8):e62. doi: 10.1093/brain/awy178. No abstract available.

PMID:
29947741
6.

[Psychosocial risk factors for chronic back pain in the general population and in competitive sports : From theory to clinical screening-a review from the MiSpEx network].

Hasenbring MI, Levenig C, Hallner D, Puschmann AK, Weiffen A, Kleinert J, Belz J, Schiltenwolf M, Pfeifer AC, Heidari J, Kellmann M, Wippert PM.

Schmerz. 2018 Aug;32(4):259-273. doi: 10.1007/s00482-018-0307-5. Review. German.

PMID:
29946960
7.

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.

PMID:
29887161
8.

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.

Davidsson J, Puschmann A, Tedgård U, Bryder D, Nilsson L, Cammenga J.

Leukemia. 2018 May;32(5):1106-1115. doi: 10.1038/s41375-018-0074-4. Epub 2018 Feb 25. Review.

9.

Development of a risk stratification and prevention index for stratified care in chronic low back pain. Focus: yellow flags (MiSpEx network).

Wippert PM, Puschmann AK, Drießlein D, Arampatzis A, Banzer W, Beck H, Schiltenwolf M, Schmidt H, Schneider C, Mayer F.

Pain Rep. 2017 Sep 28;2(6):e623. doi: 10.1097/PR9.0000000000000623. eCollection 2017 Nov.

10.

Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.

Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, Nilsson C, Landqvist Waldö M, Alafuzoff I, Hansson O, Gustafson L, Puschmann A.

Alzheimers Res Ther. 2018 Jan 9;10(1):2. doi: 10.1186/s13195-017-0330-2.

11.

Diagnosis of psychosocial risk factors in prevention of low back pain in athletes (MiSpEx).

Wippert PM, Puschmann AK, Arampatzis A, Schiltenwolf M, Mayer F.

BMJ Open Sport Exerc Med. 2017 Nov 25;3(1):e000295. doi: 10.1136/bmjsem-2017-000295. eCollection 2017.

12.

Ataxia-pancytopenia syndrome with SAMD9L mutations.

Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A.

Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct.

13.

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A.

Curr Neurol Neurosci Rep. 2017 Sep;17(9):66. doi: 10.1007/s11910-017-0780-8. Review.

14.

PBB3 imaging in Parkinsonian disorders: Evidence for binding to tau and other proteins.

Perez-Soriano A, Arena JE, Dinelle K, Miao Q, McKenzie J, Neilson N, Puschmann A, Schaffer P, Shinotoh H, Smith-Forrester J, Shahinfard E, Vafai N, Wile D, Wszolek Z, Higuchi M, Sossi V, Stoessl AJ.

Mov Disord. 2017 Jul;32(7):1016-1024. doi: 10.1002/mds.27029. Epub 2017 Jun 1.

PMID:
28568506
15.

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W.

Brain. 2017 Jun 1;140(6):e33. doi: 10.1093/brain/awx077. No abstract available.

16.

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT.

Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15.

17.

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.

Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzińska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W.

Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Erratum in: Brain. 2017 Jun 1;140(6):e37.

18.

Medicine in spine exercise (MiSpEx) for nonspecific low back pain patients: study protocol for a multicentre, single-blind randomized controlled trial.

Niederer D, Vogt L, Wippert PM, Puschmann AK, Pfeifer AC, Schiltenwolf M, Banzer W, Mayer F.

Trials. 2016 Oct 20;17(1):507. Erratum in: Trials. 2017 Feb 6;18(1):60.

19.

18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers.

Smith R, Puschmann A, Schöll M, Ohlsson T, van Swieten J, Honer M, Englund E, Hansson O.

Brain. 2016 Sep;139(Pt 9):2372-9. doi: 10.1093/brain/aww163. Epub 2016 Jun 29.

20.

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J.

Clin Neurol Neurosurg. 2016 Aug;147:78-83. doi: 10.1016/j.clineuro.2016.05.028. Epub 2016 Jun 1.

PMID:
27310290
21.

Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.

Ran C, Brodin L, Forsgren L, Westerlund M, Ramezani M, Gellhaar S, Xiang F, Fardell C, Nissbrandt H, Söderkvist P, Puschmann A, Ygland E, Olson L, Willows T, Johansson A, Sydow O, Wirdefeldt K, Galter D, Svenningsson P, Belin AC.

Neurobiol Aging. 2016 Sep;45:212.e5-212.e11. doi: 10.1016/j.neurobiolaging.2016.04.022. Epub 2016 May 3.

22.

Improving the likelihood of neurology patients being examined using patient feedback.

Appleton JP, Ilinca A, Lindgren A, Puschmann A, Hbahbih M, A Siddiqui K, de Silva R, Jones M, Butterworth R, Willmot M, Hayton T, Lunn M, Nicholl D.

BMJ Qual Improv Rep. 2015 Nov 5;4(1). pii: u209610.w4063. doi: 10.1136/bmjquality.u209610.w4063. eCollection 2015.

23.

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.

Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbé C, Lorenzo-Betancor O, Moussaud-Lamodière EL, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Puschmann A, Nishioka K, Funayama M, Hattori N, Parisi JE, Petersen RC, Graff-Radford NR, Boeve BF, Springer W, Wszolek ZK, Dickson DW, Ross OA.

Neurology. 2015 Dec 8;85(23):2016-25. doi: 10.1212/WNL.0000000000002170. Epub 2015 Nov 11.

24.

Autosomal dominant Parkinson's disease caused by SNCA duplications.

Konno T, Ross OA, Puschmann A, Dickson DW, Wszolek ZK.

Parkinsonism Relat Disord. 2016 Jan;22 Suppl 1:S1-6. doi: 10.1016/j.parkreldis.2015.09.007. Epub 2015 Sep 3. Review.

25.

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.

Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorová I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA.

Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2. Erratum in: Neurology. 2015 Nov 10;85(19):1728.

26.

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA.

Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770.

27.

CHCHD2 and Parkinson's disease.

Puschmann A, Dickson DW, Englund E, Wszolek ZK, Ross OA.

Lancet Neurol. 2015 Jul;14(7):679. doi: 10.1016/S1474-4422(15)00095-2. No abstract available.

PMID:
26067111
28.

Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement.

Puschmann A, Brighina L, Markopoulou K, Aasly J, Chung SJ, Frigerio R, Hadjigeorgiou G, Kõks S, Krüger R, Siuda J, Wider C, Zesiewicz TA, Maraganore DM.

Parkinsonism Relat Disord. 2015 Jul;21(7):675-82. doi: 10.1016/j.parkreldis.2015.04.029. Epub 2015 May 1. Review.

PMID:
25952959
29.

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.

30.

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.

Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Krüger R, Lesage S, Brice A, Chung SJ, Kim MJ, Kim YJ, Ross OA, Wszolek ZK, Rogaeva E, Xi Z, Lang AE, Klein C, Weissbach A, Mellick GD, Silburn PA, Hadjigeorgiou GM, Dardiotis E, Hattori N, Ogaki K, Tan EK, Zhao Y, Aasly J, Valente EM, Petrucci S, Annesi G, Quattrone A, Ferrarese C, Brighina L, Deutschländer A, Puschmann A, Nilsson C, Garraux G, LeDoux MS, Pfeiffer RF, Boczarska-Jedynak M, Opala G, Maraganore DM, Engelborghs S, De Deyn PP, Cras P, Cruts M, Van Broeckhoven C; GEO-PD Consortium.

Neurology. 2014 Nov 18;83(21):1906-13. doi: 10.1212/WNL.0000000000001012. Epub 2014 Oct 17.

31.

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

Ygland E, Taroni F, Gellera C, Caldarazzo S, Duno M, Soller M, Puschmann A.

Parkinsonism Relat Disord. 2014 Aug;20(8):919-23. doi: 10.1016/j.parkreldis.2014.04.018. Epub 2014 Apr 26.

PMID:
24816001
32.

Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity?

Wictorin K, Brådvik B, Nilsson K, Soller M, van Westen D, Bynke G, Bauer P, Schöls L, Puschmann A.

Parkinsonism Relat Disord. 2014 Jul;20(7):748-54. doi: 10.1016/j.parkreldis.2014.03.029. Epub 2014 Apr 13.

PMID:
24787759
33.

Alpha-synuclein repeat variants and survival in Parkinson's disease.

Chung SJ, Biernacka JM, Armasu SM, Anderson K, Frigerio R, Aasly JO, Annesi G, Bentivoglio AR, Brighina L, Chartier-Harlin MC, Goldwurm S, Hadjigeorgiou G, Jasinska-Myga B, Jeon BS, Kim YJ, Krüger R, Lesage S, Markopoulou K, Mellick G, Morrison KE, Puschmann A, Tan EK, Crosiers D, Theuns J, Van Broeckhoven C, Wirdefeldt K, Wszolek ZK, Elbaz A, Maraganore DM; Genetic Epidemiology of Parkinson's Disease Consortium.

Mov Disord. 2014 Jul;29(8):1053-7. doi: 10.1002/mds.25841. Epub 2014 Feb 27.

34.

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

Soto-Ortolaza AI, Heckman MG, Labbé C, Serie DJ, Puschmann A, Rayaprolu S, Strongosky A, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Lynch T, Uitti RJ, Wszolek ZK, Ross OA.

Am J Neurodegener Dis. 2013 Nov 29;2(4):287-99. eCollection 2013.

35.

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Mov Disord. 2013 Oct;28(12):1740-4. doi: 10.1002/mds.25600. Epub 2013 Aug 2.

36.

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A.

Parkinsonism Relat Disord. 2013 Apr;19(4):407-15. doi: 10.1016/j.parkreldis.2013.01.020. Epub 2013 Feb 23. Review.

PMID:
23462481
37.

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzińska M, Frei KP, Truong DD, Wszolek ZK, LeDoux MS.

Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27.

38.

Altered processing of emotional stimuli in migraine: an event-related potential study.

Andreatta M, Puschmann AK, Sommer C, Weyers P, Pauli P, Mühlberger A.

Cephalalgia. 2012 Nov;32(15):1101-8. doi: 10.1177/0333102412459573. Epub 2012 Sep 19.

PMID:
22992405
39.

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

Hedera P, Xiao J, Puschmann A, Momčilović D, Wu SW, LeDoux MS.

BMC Neurol. 2012 Sep 18;12:93.

40.

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Wray S, Self M; NINDS Parkinson's Disease iPSC Consortium; NINDS Huntington's Disease iPSC Consortium; NINDS ALS iPSC Consortium, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J.

PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27.

41.

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johannsen P, Nielsen JE.

Clin Genet. 2013 Mar;83(3):279-83. doi: 10.1111/j.1399-0004.2012.01903.x. Epub 2012 Jul 4.

PMID:
22650353
42.

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

LeDoux MS, Xiao J, Rudzińska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momčilović D, Vemula SR, Zhao Y.

Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28. Review.

43.

Synucleinopathies from bench to bedside.

Puschmann A, Bhidayasiri R, Weiner WJ.

Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S24-7. doi: 10.1016/S1353-8020(11)70010-4. Review.

PMID:
22166445
44.

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation.

Puschmann A, Englund E, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Törnqvist AL, Rehncrona S, Widner H, Wszolek ZK, Farrer MJ, Nilsson C.

Parkinsonism Relat Disord. 2012 May;18(4):332-8. doi: 10.1016/j.parkreldis.2011.11.019. Epub 2011 Dec 6.

45.
46.

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium.

Lancet Neurol. 2011 Oct;10(10):898-908. doi: 10.1016/S1474-4422(11)70175-2. Epub 2011 Aug 30. Erratum in: Lancet Neurol. 2011 Oct;10(10):870.

47.

VPS35 mutations in Parkinson disease.

Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ.

Am J Hum Genet. 2011 Jul 15;89(1):162-7. doi: 10.1016/j.ajhg.2011.06.001. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):347.

48.

An African-American family with dystonia.

Puschmann A, Xiao J, Bastian RW, Searcy JA, LeDoux MS, Wszolek ZK.

Parkinsonism Relat Disord. 2011 Aug;17(7):547-50. doi: 10.1016/j.parkreldis.2011.04.019. Epub 2011 May 20.

49.

A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, Strongosky AJ, Vilariño-Güell C, Farrer MJ, Ross OA, Dickson DW, Wszolek ZK.

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Parkinsonism Relat Disord. 2011 Jun;17(5):376-8. doi: 10.1016/j.parkreldis.2011.03.008. Epub 2011 Apr 11.

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