Search Results - "Kachergus, J"

α-Synuclein Locus Triplication Causes Parkinson's Disease by Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., Lincoln, S., Crawley, A., Hanson, M., Maraganore, D., Adler, C., Cookson, M. R., Muenter, M., Baptista, M., Miller, D., Blancato, J., Hardy, J., Gwinn-Hardy, K.

Get full text

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease by HAUGARVOLL, K, RADEMAKERS, R, GUIDI, M, RIBOLDAZZI, G, BROWN, L, WALTER, U, BENECKE, R, BERG, D, GASSER, T, THEUNS, J, PALS, P, CRAS, P, KACHERGUS, J. M, DE DEYN, P. Paul, ENGELBORGHS, S, PICKUT, B, UITTI, R. J, FOROUD, T, NICHOLS, W. C, HAGENAH, J, KLEIN, C, SAMII, A, ZABETIAN, C. P, NUYTEMANS, K, BONIFATI, V, VAN BROECKHOVEN, C, FARRER, M. J, WSZOLEK, Z. K, ROSS, O. A, GIBSON, J. M, TAN, E.-K, GAIG, C, TOLOSA, E, GOLDWURM, S

“…Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common cause of Parkinson disease (PD). Several dominantly inherited pathogenic substitutions have…”
Get full text

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication by FUCHS, J, NILSSON, C, GASSER, T, FARRER, M. J, KACHERGUS, J, MUNZ, M, LARSSON, E.-M, SCHÜLE, B, LANGSTON, J. W, MIDDLETON, F. A, ROSS, O. A, HULIHAN, M

“…The "Lister family complex," an extensive Swedish family with autosomal dominant Parkinson disease, was first described by Henry Mjönes in 1949. On the basis…”
Get full text

Characterization of DCTN1 genetic variability in neurodegeneration by VILARINO-GÜELL, C, WIDER, C, UITTI, R. J, GRAFF-RADFORD, N. R, BOEVE, B. F, JOSEPHS, K. A, MILLER, B, BOYLAN, K. B, GWINN, K, ADLER, C. H, AASLY, J. O, HENTATI, F, SOTO-ORTOLAZA, A. I, DESTEE, A, KRYGOWSKA-WAJS, A, CHARTIER-HARLIN, M.-C, ROSS, O. A, RADEMAKERS, R, FARRER, M. J, COBB, S. A, KACHERGUS, J. M, KEELING, B. H, DACHSEL, J. C, HULIHAN, M. M, DICKSON, D. W, WSZOLEK, Z. K

“…Recently, mutations in DCTN1 were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology. Previously, mutations in DCTN1 were…”
Get full text

LRRK2 mutations in Parkinson disease by FARRER, M, STONE, J, MATA, I. F, LINCOLN, S, KACHERGUS, J, HULIHAN, M, STRAIN, K. J, MARAGANORE, D. M

“…To determine the frequency of LRRK2 mutations in idiopathic Parkinson disease (PD), the authors studied 786 PD probands, 32 affected siblings, 1,044 unaffected…”
Get full text

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 : Redefining DYT14 as DYT5 by WIDER, C, MELQUIST, S, STEPHAN, D. A, SCHORDERET, D. F, GHIKA, J, BURKHARD, P. R, KAPATOS, G, HUTTON, M, FARRER, M. J, WSZOLEK, Z. K, VINGERHOETS, F. J. G, HAUF, M, SOLIDA, A, COBB, S. A, KACHERGUS, J. M, GASS, J, COON, K. D, BAKER, M, CANNON, A

“…To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). Clinical investigation was made of available family members,…”
Get full text

Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population by Myhre, R., Toft, M., Kachergus, J., Hulihan, M. M., Aasly, J. O., Klungland, H., Farrer, M. J.

“…Objectives –  Previous studies have found associations between Parkinson’s disease (PD) and polymorphisms located within both the alpha‐synuclein gene (SNCA)…”
Get full text

PINK1 mutations and parkinsonism by ISHIHARA-PAUL, L, HULIHAN, M. M, ZOUARI, M, SASSI, S. B, YAHMED, S. B, EL EUCH-FAYECHE, G, MATTHEWS, P. M, MIDDLETON, L. T, GIBSON, R. A, HENTATI, F, FARRER, M. J, KACHERGUS, J, UPMANYU, R, WARREN, L, AMOURI, R, ELANGO, R, PRINJHA, R. K, SOTO, A, KEFI, M

“…PINK1 loss-of-function causes recessive, early-onset parkinsonism. In Tunisia there is a high rate of consanguineous marriage but PINK1 carrier frequency and…”
Get full text

LRRK2 mutations are a common cause of Parkinson's disease in Spain by Mata, I. F., Ross, O. A., Kachergus, J., Huerta, C., Ribacoba, R., Moris, G., Blazquez, M., Guisasola, L. M., Salvador, C., Martinez, C., Farrer, M., Alvarez, V.

“…Pathogenic mutations in the leucine‐rich repeat kinase 2 gene (LRRK2; PARK8) have been implicated in autosomal dominant, late‐onset parkinsonism. The LRRK2…”
Get full text

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function by Lockhart, P J, Lincoln, S, Hulihan, M, Kachergus, J, Wilkes, K, Bisceglio, G, Mash, D C, Farrer, M J

Get full text

Lrrk2 pathogenic substitutions in Parkinson's disease by MATA, Ignacio F, KACHERGUS, Jennifer M, LAHOZ, Carlos, WSZOLEK, Zbigniew K, FARRER, Matthew J, TAYLOR, Julie P, LINCOLN, Sarah, AASLY, Jan, LYNCH, Timothy, HULIHAN, Mary M, COBB, Stephanie A, WU, Ruey-Meei, LU, Chin-Song

“…Leucine-rich repeat kinase 2 (LRRK2) mutations have been implicated in autosomal dominant parkinsonism, consistent with typical levodopa-responsive Parkinson's…”
Get full text

P2.206 EIF4G1 mutations in familial parkinsonism by Chartier-Harlin, M.-C, Dachsel, J, Hulihan, M, Kachergus, J, Lepretre, F, Le Rhun, E, Mutez, E, Lincoln, S, Ross, O, Vilariño-Güell, C, Yanagiya, A, Sonenberg, N, Lockhart, P, Wszolek, Z, Aasly, J, Frigerio, R, Maraganore, D, Lynch, T, Ferraris, A, Valente, E.-M, Destée, A, Farrer, M

Get full text

Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism by Krygowska-Wajs, A, Kachergus, J M, Hulihan, M M, Farrer, M J, Searcy, J A, Booij, J, Berendse, H W, Wolters, E Ch, Wszolek, Z K

“…We studied 8 large Polish families with parkinsonism, 6 of which were newly identified. Thirty-six family members had well-documented levodopa-responsive…”
Get full text

Effects of immune architecture on response to adjuvant capecitabine in triple negative breast cancer (FinXX trial) by Hinerfeld, D.A., Chumsri, S., Asleh, K., Brauer, H.A., Kachergus, J., Lauttia, S., Lindman, H., Nielsen, T., Joensuu, H., Thompson, A.

Get full text

α-synuclein locus duplication as a cause of familial Parkinson's disease by Chartier-Harlin, Marie-Christine, Kachergus, Jennifer, Roumier, Christophe, Mouroux, Vincent, Douay, Xavier, Lincoln, Sarah, Levecque, Clotilde, Larvor, Lydie, Andrieux, Joris, Hulihan, Mary, Waucquier, Nawal, Defebvre, Luc, Amouyel, Philippe, Farrer, Matthew, Destée, Alain

“…Genomic triplication of the α-synuclein gene ( SNCA) has been reported to cause hereditary early-onset parkinsonism with dementia. These findings prompted us…”
Get full text

333P Evaluation of a composite PET/CT and HER2 tissue-based biomarker to predict response to neoadjuvant HER2-directed therapy in early breast cancer (TBCRC026) by Hennessy, M.A., Cimino-Mathews, A., Carter, J., Kachergus, J., Ma, Y., Leal, J., Solnes, L., Abramson, V., Carey, L.A., Rimawi, M., Specht, J., Storniolo, A.M., Vaklavas, C., Wolff, A.C., Wahl, R., Perez, E.A., Huang, C-Y., Stearns, V., Thompson, A., Connolly, R.M.

Get full text

Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology by Zimprich, Alexander, Biskup, Saskia, Leitner, Petra, Lichtner, Peter, Farrer, Matthew, Lincoln, Sarah, Kachergus, Jennifer, Hulihan, Mary, Uitti, Ryan J., Calne, Donald B., Stoessl, A.Jon, Pfeiffer, Ronald F., Patenge, Nadja, Carbajal, Iria Carballo, Vieregge, Peter, Asmus, Friedrich, Müller-Myhsok, Bertram, Dickson, Dennis W., Meitinger, Thomas, Strom, Tim M., Wszolek, Zbigniew K., Gasser, Thomas

“…We have previously linked families with autosomal-dominant, late-onset parkinsonism to chromosome 12p11.2-q13.1 (PARK8). By high-resolution recombination…”
Get full text

Comparison of kindreds with parkinsonism and α-synuclein genomic multiplications by Farrer, Matt, Kachergus, Jennifer, Forno, Lysia, Lincoln, Sarah, Wang, Deng-Shun, Hulihan, Mary, Maraganore, Demetrius, Gwinn-Hardy, Katrina, Wszolek, Zbigniew, Dickson, Dennis, Langston, J. William

“…Genomic triplication of the α‐synuclein gene recently has been associated with familial Parkinson's disease in the Spellman–Muenter kindred. Here, we present…”
Get full text

Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations by Kachergus, Jennifer, Mata, Ignacio F., Hulihan, Mary, Taylor, Julie P., Lincoln, Sarah, Aasly, Jan, Gibson, J. Mark, Ross, Owen A., Lynch, Timothy, Wiley, Joseph, Payami, Haydeh, Nutt, John, Maraganore, Demetrius M., Czyzewski, Krzysztof, Styczynska, Maria, Wszolek, Zbigniew K., Farrer, Matthew J., Toft, Mathias

“…Autosomal dominant parkinsonism has been attributed to pathogenic amino acid substitutions in leucine-rich repeat kinase 2 (LRRK2). By sequencing multiplex…”
Get full text

Clinical features of LRRK2-associated Parkinson's disease in central Norway by Aasly, Jan O., Toft, Mathias, Fernandez-Mata, Ignacio, Kachergus, Jennifer, Hulihan, Mary, White, Linda R., Farrer, Matthew

“…Several pathogenic mutations in the leucine‐rich repeat kinase 2 (LRRK2; PARK8) gene recently have been identified in familial and sporadic parkinsonism. We…”
Get full text