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  • Zbigniew K Wszolek
2016

Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms

Hassan, A., Heckman, M. G., Ahlskog, J. E., Wszolek, Z. K., Serie, D. J., Uitti, R. J., Van Gerpen, J. A., Okun, M. S., Rayaprolu, S. & Ross, O. A., Jan 1 2016, In : Parkinsonism and Related Disorders. 22, p. 102-105 4 p.

Research output: Contribution to journalArticle

9 Scopus citations
2018
1 Scopus citations
2017

Brain calcification in a CSF1R mutation carrier precedes white matter degeneration

Konno, T., Broderick, D. F. & Wszolek, Z. K., 2017, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

3 Scopus citations
2016

Novel radiology method for investigating middle ear myoclonus

Siegel, J., Lundy, L. B., Dove, C., Mansour, P. & Wszolek, Z. K., 2016, In : Clinical Anatomy. 29, 6, p. 811-812 2 p.

Research output: Contribution to journalLetter

2011

Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism

Fujioka, S. & Wszolek, Z. K., Nov 1 2011, In : Journal of Molecular Neuroscience. 45, 3, p. 359-365 7 p.

Research output: Contribution to journalArticle

15 Scopus citations
2018

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant

Konno, T., Blackburn, P. R., Rozen, T., Van Gerpen, J. A., Ross, O. A., Atwal, P. S. & Wszolek, Z. K., Jan 1 2018, (Accepted/In press) In : Neurologia i Neurochirurgia Polska.

Research output: Contribution to journalArticle

3 Scopus citations
2016

Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease

Lorenzo-Betancor, O., Wszolek, Z. K. & Ross, O. A., Feb 1 2016, In : Annals of Neurology. 79, 2, p. 331 1 p.

Research output: Contribution to journalArticle

4 Scopus citations
2012

PARK2 variability in Polish Parkinson's disease patients - interaction with mitochondrial haplogroups

Gaweda-Walerych, K., Safranow, K., Jasinska-Myga, B., Bialecka, M., Klodowska-Duda, G., Rudzinska, M., Czyzewski, K., Cobb, S. A., Slawek, J., Styczynska, M., Opala, G., Drozdzik, M., Nishioka, K., Farrer, M. J., Ross, O. A., Wszolek, Z. K., Barcikowska, M. & Zekanowski, C., Jun 1 2012, In : Parkinsonism and Related Disorders. 18, 5, p. 520-524 5 p.

Research output: Contribution to journalArticle

8 Scopus citations
2017

Occurrence of Crohn's disease with Parkinson's disease

Fujioka, S., Curry, S. E., Kennelly, K., Tacik, P., Heckman, M. G., Tsuboi, Y., Strongosky, A. J., Van Gerpen, J. A., Uitti, R. J., Ross, O. A., Ikezu, T. & Wszolek, Z. K., Apr 1 2017, In : Parkinsonism and Related Disorders. 37, p. 116-117 2 p.

Research output: Contribution to journalLetter

13 Scopus citations
2013

Insights into LRRK2-Mutation Related PD from PET Imaging Studies

Sossi, V., Agarwal, P., Mckenzie, J., Dinelle, K., Schulzer, M., Aasly, J., Wszolek, Z., Farrer, M. & Stoessl, A. J., Dec 1 2013, Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 2012. Elsevier Inc., p. 123-124 2 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2014

DCTN1 mutations and progressive supranuclear palsy-like phenotype

Fujioka, S., Tacik, P. & Wszolek, Z. K., May 2014, In : JAMA neurology. 71, 5, 1 p.

Research output: Contribution to journalLetter

2 Scopus citations
2011

The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

Xiao, J., Zhao, Y., Bastian, R. W., Perlmutter, J. S., Racette, B. A., Tabbal, S. D., Karimi, M., Paniello, R. C., Wszolek, Z. K., Uitti, R. J., Van Gerpen, J. A., Simon, D. K., Tarsy, D., Hedera, P., Truong, D. D., Frei, K. P., Blitzer, A., Rudzińska, M., Pfeiffer, R. F., Le, C. & 1 others, Ledoux, M. S., Feb 15 2011, In : Movement Disorders. 26, 3, p. 549-553 5 p.

Research output: Contribution to journalArticle

14 Scopus citations
2017

Diagnostic value of brain calcifications in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Konno, T., Broderick, D. F., Mezaki, N., Isami, A., Kaneda, D., Tashiro, Y., Tokutake, T., Keegan, B. M., Woodruff, B. K., Miura, T., Nozaki, H., Nishizawa, M., Onodera, O., Wszolek, Z. K. & Ikeuchi, T., Jan 1 2017, In : American Journal of Neuroradiology. 38, 1, p. 77-83 7 p.

Research output: Contribution to journalArticle

24 Scopus citations
2011

Death-associated protein kinase 1 variation and Parkinson's disease

Dachsel, J. C., Wider, C., Vilariño-Güell, C., Aasly, J. O., Rajput, A., Rajput, A. H., Lynch, T., Craig, D., Krygowska-Wajs, A., Jasinska-Myga, B., Opala, G., Barcikowska, M., Czyzewski, K., Wu, R. M., Heckman, M. G., Uitti, R. J., Wszolek, Z. K., Farrer, M. J. & Ross, O. A., Aug 2011, In : European Journal of Neurology. 18, 8, p. 1090-1093 4 p.

Research output: Contribution to journalArticle

5 Scopus citations
2014

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

Shannon, B., Soto-Ortolaza, A., Rayaprolu, S., Cannon, H. D., Labbé, C., Benitez, B. A., Choi, J., Lynch, T., Boczarska-Jedynak, M., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Van Gerpen, J. A., Uitti, R. J., Springer, W., Cruchaga, C., Wszolek, Z. K. & Ross, O. A., Aug 2014, In : Neurobiology of aging. 35, 8, p. 1958.e1-1958.e2

Research output: Contribution to journalArticle

15 Scopus citations

Update on novel familial forms of Parkinson's disease and multiple system atrophy

Fujioka, S., Ogaki, K., Tacik, P. M., Uitti, R. J., Ross, O. A. & Wszolek, Z. K., Jan 1 2014, In : Parkinsonism and Related Disorders. 20, SUPPL.1, p. S29-S34

Research output: Contribution to journalArticle

41 Scopus citations
2012

C9ORF72 Hexanucleotide repeat expansions in patients with als from the coriell cell repository

Rutherford, N. J., DeJesus-Hernandez, M., Baker, M. C., Kryston, T. B., Brown, P. E., Lomen-Hoerth, C., Boylan, K., Wszolek, Z. K. & Rademakers, R., Jul 31 2012, In : Neurology. 79, 5, p. 482-483 2 p.

Research output: Contribution to journalArticle

12 Scopus citations
2016

Genetics of Parkinson's disease: a review of SNCA and LRRK2

Konno, T., Siuda, J. & Wszolek, Z. K., Jan 1 2016, In : Wiadomosci lekarskie (Warsaw, Poland : 1960). 69, 3, p. 328-332 5 p.

Research output: Contribution to journalReview article

6 Scopus citations
2013

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

Vemula, S. R., Puschmann, A., Xiao, J., Zhao, Y., Rudzińska, M., Frei, K. P., Truong, D. D., Wszolek, Z. K. & LeDoux, M. S., Jun 1 2013, In : Human molecular genetics. 22, 12, p. 2510-2519 10 p.

Research output: Contribution to journalArticle

77 Scopus citations
2011

An African-American family with dystonia

Puschmann, A., Xiao, J., Bastian, R. W., Searcy, J. A., LeDoux, M. S. & Wszolek, Z. K., Aug 1 2011, In : Parkinsonism and Related Disorders. 17, 7, p. 547-550 4 p.

Research output: Contribution to journalArticle

9 Scopus citations
2013

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: A case report and a literature review of brain calcifications disorders

Fujioka, S., Broderick, D. F., Sundal, C., Baker, M. C., Rademakers, R. & Wszolek, Z. K., Oct 1 2013, In : Journal of Neurology. 260, 10, p. 2665-2668 4 p.

Research output: Contribution to journalLetter

16 Scopus citations
2014

ALS-FTD complex disorder due to C9ORF72 gene mutation: Description of first polish family

Siuda, J., Lewicka, T., Bujak, M., Opala, G., Golenia, A., Slowik, A., Van Blitterswijk, M., Baker, M., Ertekin-Taner, N., Wszolek, Z. K. & Rademakers, R., Jul 2014, In : European Neurology. 72, 1-2, p. 64-71 8 p.

Research output: Contribution to journalArticle

1 Scopus citations
2015

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

Sundal, C., Baker, M., Karrenbauer, V., Gustavsen, M., Bedri, S., Glaser, A., Myhr, K. M., Haugarvoll, K., Zetterberg, H., Harbo, H., Kockum, I., Hillert, J., Wszolek, Z., Rademakers, R. & Andersen, O., Feb 1 2015, In : European Journal of Neurology. 22, 2, p. 328-333 6 p.

Research output: Contribution to journalArticle

22 Scopus citations
2016

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

Dulski, J., Sołtan, W., Schinwelski, M., Rudzińska, M., Wójcik-Pȩdziwiatr, M., Wictor, L., Schön, F., Puschmann, A., Klempíř, J., Tilley, L., Roth, J., Tacik, P., Fujioka, S., Drozdowski, W., Sitek, E. J., Wszolek, Z. K. & Sławek, J., Aug 1 2016, In : Clinical Neurology and Neurosurgery. 147, p. 78-83 6 p.

Research output: Contribution to journalArticle

4 Scopus citations
2012

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

LeDoux, M. S., Xiao, J., Rudzińska, M., Bastian, R. W., Wszolek, Z. K., Van Gerpen, J. A., Puschmann, A., Momčilović, D., Vemula, S. R. & Zhao, Y., Jun 1 2012, In : Parkinsonism and Related Disorders. 18, 5, p. 414-425 12 p.

Research output: Contribution to journalReview article

48 Scopus citations
2013

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

Soto-Ortolaza, A. I., Heckman, M. G., Labbé, C., Serie, D. J., Puschmann, A., Rayaprolu, S., Strongosky, A., Boczarska-Jedynak, M., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Czyzewski, K., Lynch, T., Uitti, R. J., Wszolek, Z. K. & Ross, O. A., Dec 15 2013, In : American Journal of Neurodegenerative Diseases. 2, 4, p. 287-299 13 p.

Research output: Contribution to journalArticle

18 Scopus citations
2016

Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead to SLC20A2

Grütz, K., Volpato, C. B., Domingo, A., Alvarez-Fischer, D., Gebert, U., Schifferle, G., Buffone, E., Wszolek, Z. K., Rademakers, R. V., Ferbert, A., Hicks, A. A., Klein, C., Pramstaller, P. P. & Westenberger, A., Dec 1 2016, In : Movement Disorders. 31, 12, p. 1901-1904 4 p.

Research output: Contribution to journalArticle

13 Scopus citations

Assessment of olfactory function in MAPT-associated neurodegenerative disease reveals odor-identification irreproducibility as a non-disease-specific, general characteristic of olfactory dysfunction

Markopoulou, K., Chase, B. A., Robowski, P., Strongosky, A., Narozańska, E., Sitek, E. J., Berdynski, M., Barcikowska, M., Baker, M. C., Rademakers, R. V., Sławek, J., Klein, C., Hückelheim, K., Kasten, M. & Wszolek, Z. K., Nov 1 2016, In : PLoS One. 11, 11, e0165112.

Research output: Contribution to journalArticle

5 Scopus citations
2018

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, Z. K., Nilsson, K., Nilsson, C., Landqvist Waldö, M., Alafuzoff, I., Hansson, O., Gustafson, L. & Puschmann, A., Jan 9 2018, In : Alzheimer's Research and Therapy. 10, 1, 2.

Research output: Contribution to journalReview article

5 Scopus citations
2020

Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations

Tipton, P. W., Soto-Beasley, A. I., Walton, R. L., Soler-Rangel, S., Romero-Osorio, Ó., Díaz, C., Moreno-López, C. L., Ross, O. A., Wszolek, Z. K. & Cerquera-Cleves, C., Apr 2020, In : Parkinsonism and Related Disorders. 73, p. 16-18 3 p.

Research output: Contribution to journalLetter

2014

Alpha-synuclein repeat variants and survival in parkinson's disease

Chung, S. J., Biernacka, J. M., Armasu, S. M., Anderson, K., Frigerio, R., Aasly, J. O., Annesi, G., Bentivoglio, A. R., Brighina, L., Chartier-Harlin, M. C., Goldwurm, S., Hadjigeorgiou, G., Jasinska-Myga, B., Jeon, B. S., Kim, Y. J., Krüger, R., Lesage, S., Markopoulou, K., Mellick, G., Morrison, K. E. & 16 others, Puschmann, A., Tan, E. K., Crosiers, D., Theuns, J., Van Broeckhoven, C., Wirdefeldt, K., Wszolek, Z. K., Elbaz, A., Maraganore, D. M., Yahalom, G., Orlev, Y., Cohen, O. S., Kozlova, E., Friedman, E., Inzelberg, R. & Hassin-Baer, S., Jul 2014, In : Movement Disorders. 29, 8, p. 1053-1057 5 p.

Research output: Contribution to journalArticle

9 Scopus citations
2012

Large-scale replication and heterogeneity in Parkinson disease genetic loci

Sharma, M., Ioannidis, J. P. A., Aasly, J. O., Annesi, G., Brice, A., Van Broeckhoven, C., Bertram, L., Bozi, M., Crosiers, D., Clarke, C., Facheris, M., Farrer, M., Garraux, G., Gispert, S., Auburger, G., Vilariño-Güell, C., Hadjigeorgiou, G. M., Hicks, A. A., Hattori, N., Jeon, B. & 34 others, Lesage, S., Lill, C. M., Lin, J. J., Lynch, T., Lichtner, P., Lang, A. E., Mok, V., Jasinska-Myga, B., Mellick, G. D., Morrison, K. E., Opala, G., Pramstaller, P. P., Pichler, I., Park, S. S., Quattrone, A., Rogaeva, E., Ross, O. A., Stefanis, L., Stockton, J. D., Satake, W., Silburn, P. A., Theuns, J., Tan, E. K., Toda, T., Tomiyama, H., Uitti, R. J., Wirdefeldt, K., Wszolek, Z., Xiromerisiou, G., Yueh, K. C., Zhao, Y., Gasser, T., Maraganore, D. & Krüger, R., Aug 14 2012, In : Neurology. 79, 7, p. 659-667 9 p.

Research output: Contribution to journalArticle

96 Scopus citations
2013

Investigating the role of FUS exonic variants in Essential Tremor

Labbé, C., Soto-Ortolaza, A. I., Rayaprolu, S., Harriott, A. M., Strongosky, A. J., Uitti, R. J., Van Gerpen, J. A., Wszolek, Z. K. & Ross, O. A., Aug 1 2013, In : Parkinsonism and Related Disorders. 19, 8, p. 755-757 3 p.

Research output: Contribution to journalArticle

28 Scopus citations
2017

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

Wang, L., Heckman, M. G., Aasly, J. O., Annesi, G., Bozi, M., Chung, S. J., Clarke, C., Crosiers, D., Eckstein, G., Garraux, G., Hadjigeorgiou, G. M., Hattori, N., Jeon, B., Kim, Y. J., Kubo, M., Lesage, S., Lin, J. J., Lynch, T., Lichtner, P., Mellick, G. D. & 21 others, Mok, V., Morrison, K. E., Quattrone, A., Satake, W., Silburn, P. A., Stefanis, L., Stockton, J. D., Tan, E. K., Toda, T., Brice, A., Van Broeckhoven, C., Uitti, R. J., Wirdefeldt, K., Wszolek, Z., Xiromerisiou, G., Maraganore, D. M., Gasser, T., Krüger, R., Farrer, M. J., Ross, O. A. & Sharma, M., Jan 1 2017, In : Neurobiology of aging. 49, p. 217.e1-217.e4

Research output: Contribution to journalArticle

1 Scopus citations
2019

Miro1 Marks Parkinson's Disease Subset and Miro1 Reducer Rescues Neuron Loss in Parkinson's Models

Hsieh, C. H., Li, L., Vanhauwaert, R., Nguyen, K. T., Davis, M. D., Bu, G., Wszolek, Z. K. & Wang, X., Dec 3 2019, In : Cell Metabolism. 30, 6, p. 1131-1140.e7

Research output: Contribution to journalArticle

3 Scopus citations
2016

Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C

Koga, S., Josephs, K. A., Ogaki, K., Labbé, C., Uitti, R. J., Graff Radford, N. R., Van Gerpen, J. A., Cheshire, W. P., Aoki, N., Rademakers, R. V., Wszolek, Z. K., Ross, O. A. & Dickson, D. W., 2016, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

33 Scopus citations
2012

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

Sundal, C., Van Gerpen, J. A., Nicholson, A. M., Wider, C., Shuster, E. A., Aasly, J., Spina, S., Ghetti, B., Roeber, S., Garbern, J., Borjesson-Hanson, A., Tselis, A., Swerdlow, R. H., Miller, B. B., Fujioka, S., Heckman, M. G., Uitti, R. J., Josephs, K. A., Baker, M., Andersen, O. & 4 others, Rademakers, R., Dickson, D. W., Broderick, D. & Wszolek, Z. K., Aug 7 2012, In : Neurology. 79, 6, p. 566-574 9 p.

Research output: Contribution to journalArticle

56 Scopus citations
2013

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease

Hoffman-Zacharska, D., Koziorowski, D., Ross, O. A., Milewski, M., Poznański, J., Jurek, M., Wszolek, Z. K., Soto-Ortolaza, A., Sławek, J., Janik, P., Jamrozik, Z., Potulska-Chromik, A., Jasińska-Myga, B., Opala, G., Krygowska-Wajs, A., Czyzewski, K., Dickson, D. W., Bal, J. & Friedman, A., Nov 1 2013, In : Parkinsonism and Related Disorders. 19, 11, p. 1057-1060 4 p.

Research output: Contribution to journalArticle

31 Scopus citations
2011

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

Murray, M. E., Dejesus-Hernandez, M., Rutherford, N. J., Baker, M., Duara, R., Graff-Radford, N. R., Wszolek, Z. K., Ferman, T. J., Josephs, K. A., Boylan, K. B., Rademakers, R. & Dickson, D. W., Dec 1 2011, In : Acta neuropathologica. 122, 6, p. 673-690 18 p.

Research output: Contribution to journalArticle

212 Scopus citations
2015

CHCHD2 and Parkinson's disease

Puschmann, A., Dickson, D. W., Englund, E., Wszolek, Z. K. & Ross, O. A., Jul 1 2015, In : The Lancet Neurology. 14, 7, 1 p.

Research output: Contribution to journalLetter

9 Scopus citations
2013

Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

Heckman, M. G., Soto-Ortolaza, A. I., Aasly, J. O., Abahuni, N., Annesi, G., Bacon, J. A., Bardien, S., Bozi, M., Brice, A., Brighina, L., Carr, J., Chartier-Harlin, M. C., Dardiotis, E., Dickson, D. W., Diehl, N. N., Elbaz, A., Ferrarese, C., Fiske, B., Gibson, J. M., Gibson, R. & 42 others, Hadjigeorgiou, G. M., Hattori, N., Ioannidis, J. P. A., Boczarska-Jedynak, M., Jasinska-Myga, B., Jeon, B. S., Kim, Y. J., Klein, C., Kruger, R., Kyratzi, E., Lesage, S., Lin, C. H., Lynch, T., Maraganore, D. M., Mellick, G. D., Mutez, E., Nilsson, C., Opala, G., Park, S. S., Petrucci, S., Puschmann, A., Quattrone, A., Sharma, M., Silburn, P. A., Sohn, Y. H., Stefanis, L., Tadic, V., Theuns, J., Tomiyama, H., Uitti, R. J., Valente, E. M., Van Broeckhoven, C., Van De Loo, S., Vassilatis, D. K., Vilariño-Güell, C., White, L. R., Wirdefeldt, K., Wszolek, Z. K., Wu, R. M., Hentati, F., Farrer, M. J. & Ross, O. A., Oct 1 2013, In : Movement Disorders. 28, 12, p. 1740-1744 5 p.

Research output: Contribution to journalArticle

13 Scopus citations
2012

Atypical motor and behavioral presentations of Alzheimer disease a case-based approach

Duker, A. P., Espay, A. J., Wszolek, Z. K., Rademakers, R., Dickson, D. W. & Kelley, B. J., Sep 1 2012, In : Neurologist. 18, 5, p. 266-272 7 p.

Research output: Contribution to journalReview article

14 Scopus citations
2014

Familial progressive supranuclear palsy: A literature review

Fujioka, S., Van Gerpen, J. A., Uitti, R. J., Dickson, D. W. & Wszolek, Z. K., Jan 1 2014, In : Neurodegenerative Diseases. 13, 2-3, p. 180-182 3 p.

Research output: Contribution to journalArticle

5 Scopus citations
2011

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

Sharma, M., Maraganore, D. M., Ioannidis, J. P. A., Riess, O., Aasly, J. O., Annesi, G., Abahuni, N., Bentivoglio, A. R., Brice, A., Van Broeckhoven, C., Chartier-Harlin, M. C., Destée, A., Djarmati, A., Elbaz, A., Farrer, M., Ferrarese, C., Gibson, J. M., Gispert, S., Hattori, N., Jasinska-Myga, B. & 23 others, Klein, C., Lesage, S., Lynch, T., Lichtner, P., Lambert, J. C., Lang, A. E., Mellick, G. D., De Nigris, F., Opala, G., Quattrone, A., Riva, C., Rogaeva, E., Ross, O. A., Satake, W., Silburn, P. A., Theuns, J., Toda, T., Tomiyama, H., Uitti, R. J., Wirdefeldt, K., Wszolek, Z., Gasser, T. & Krüger, R., Nov 2011, In : Neurobiology of aging. 32, 11, p. 2108.e1-2108.e5

Research output: Contribution to journalArticle

16 Scopus citations
2013

TARDBP mutations in Parkinson's disease

Rayaprolu, S., Fujioka, S., Traynor, S., Soto-Ortolaza, A. I., Petrucelli, L., Dickson, D. W., Rademakers, R., Boylan, K. B., Graff-Radford, N. R., Uitti, R. J., Wszolek, Z. K. & Ross, O. A., Mar 1 2013, In : Parkinsonism and Related Disorders. 19, 3, p. 312-315 4 p.

Research output: Contribution to journalArticle

23 Scopus citations
2012

Sporadic diffuse leucoencephalopathy with axonal spheroids: Report of a profuse and rapid cortical-spinal degeneration

Maues De Paula, A., Michel, B., Dickson, D. W., Wszolek, Z. K. & Pellissier, J. F., Aug 1 2012, In : Neurological Sciences. 33, 4, p. 905-909 5 p.

Research output: Contribution to journalArticle

1 Scopus citations
2018

Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease

Kasanuki, K., Josephs, K. A., Ferman, T. J., Murray, M. E., Koga, S., Konno, T., Sakae, N., Parks, A., Uitti, R. J., Van Gerpen, J. A., Graff Radford, N. R., Wszolek, Z. K. & Dickson, D. W., Jul 17 2018, In : Neurology. 91, 3, p. e268-e279

Research output: Contribution to journalArticle

10 Scopus citations

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Miura, T., Mezaki, N., Konno, T., Iwasaki, A., Hara, N., Miura, M., Funayama, M., Unai, Y., Tashiro, Y., Okita, K., Kihara, T., Ito, N., Kanatsuka, Y., Jones, D. T., Hara, N., Ishiguro, T., Tokutake, T., Kasuga, K., Nozaki, H., Dickson, D. W. & 3 others, Onodera, O., Wszolek, Z. K. & Ikeuchi, T., Oct 1 2018, In : Journal of Neurology. 265, 10, p. 2415-2424 10 p.

Research output: Contribution to journalArticle

5 Scopus citations
2011

Translation initiator EIF4G1 mutations in familial parkinson disease

Chartier-Harlin, M. C., Dachsel, J. C., Vilariño-Güell, C., Lincoln, S. J., Leprêtre, F., Hulihan, M. M., Kachergus, J., Milnerwood, A. J., Tapia, L., Song, M. S., Le Rhun, E., Mutez, E., Larvor, L., Duflot, A., Vanbesien-Mailliot, C., Kreisler, A., Ross, O. A., Nishioka, K., Soto-Ortolaza, A. I., Cobb, S. A. & 30 others, Melrose, H. L., Behrouz, B., Keeling, B. H., Bacon, J. A., Hentati, E., Williams, L., Yanagiya, A., Sonenberg, N., Lockhart, P. J., Zubair, A. C., Uitti, R. J., Aasly, J. O., Krygowska-Wajs, A., Opala, G., Wszolek, Z. K., Frigerio, R., Maraganore, D. M., Gosal, D., Lynch, T., Hutchinson, M., Bentivoglio, A. R., Valente, E. M., Nichols, W. C., Pankratz, N., Foroud, T., Gibson, R. A., Hentati, F., Dickson, D. W., Destée, A. & Farrer, M. J., Sep 9 2011, In : American journal of human genetics. 89, 3, p. 398-406 9 p.

Research output: Contribution to journalArticle

179 Scopus citations
2018

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease

Hou, X., Fiesel, F., Truban, D., Castanedes Casey, M., Lin, W. L., Soto, A. I., Tacik, P., Rousseau, L. G., Diehl, N. N., Heckman, M. G., Lorenzo-Betancor, O., Ferrer, I., Arbelo, J. M., Steele, J. C., Farrer, M. J., Cornejo-Olivas, M., Torres, L., Mata, I. F., Graff Radford, N. R., Wszolek, Z. K. & 4 others, Ross, O. A., Murray, M. E., Dickson, D. W. & Springer, W., Jan 1 2018, (Accepted/In press) In : Autophagy.

Research output: Contribution to journalArticle

9 Scopus citations