PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

Autor: Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, Melis M., CORTELLI, PIETRO, CAPELLARI, SABINA

Publikováno v: Brain, 137, 1361-1373
Wong, T H, Chiu, W Z, Breedveld, G J, Li, K W, Verkerk, A J, Hondius, D C, Hukema, R K, Seelaar, H, Frick, P, Severijnen, L A, Lammers, G J, Lebbink, J, van Duinen, S G, Kamphorst, W, Rozemuller, A J M, Bakker, E B, Neumann, M, Willemsen, R, Bonifati, V, Smit, A B & van Swieten, J C 2014, ' PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology ', Brain, vol. 137, no. 5, pp. 1361-1373 . https://doi.org/10.1093/brain/awu067
Brain, 137(5), 1361-1373. Oxford University Press
Brain, 137, 1361-1373. Oxford University Press
Brain: a journal of neurology, 137(Pt 5), 1361-73. Oxford University Press
Brain 137(5), 1361-1373 (2014). doi:10.1093/brain/awu067

Inclusions of intermediate filaments are found in a number of neurodegenerative diseases. Using whole exome sequencing, linkage analysis and proteomics, Wong and Chiu et al. identify a new familial neurodegenerative disease with intermediate filament

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75fa646b3cfb07151e5070a075e377f
https://doi.org/10.1093/brain/awu067

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

Autor: Olgiati, Simone, Skorvanek, M, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido, Bonte, Ramon, Ozgur, Zeliha, Van den Hout - van Vroonhoven, Mirjam, Schoonderwoerd, Kees, Verheijen, Frans, van Ijcken, Wilfred, Chien, HF, Barbosa, ER, Chang, HC, Lai, SC, Yeh, TH, Lu, CS, Wu-Chou, YH, Kievit, Anneke, Han, V, Gdovinova, Z, Jech, R, Hofstra, Robert, Ruijter, George, Mandemakers, Wim, Bonifati, Vincenzo

Publikováno v: Movement Disorders, 31(7), 1041-1048. John Wiley & Sons Inc.

BackgroundECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The object

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ff383e1c61630cd67e8c3f6d710ddc96
https://pubmed.ncbi.nlm.nih.gov/27159584

ATP13A2-Related Neurodegeneration (PARK9) Without Evidence of Brain Iron Accumulation

Autor: Chien, HF, Bonifati, Vincenzo, Barbosa, ER

Publikováno v: Movement Disorders, 26(7), 1364-1365. John Wiley & Sons Inc.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::7a3b349453f5ca71c91fbe4e1316d838
https://pure.eur.nl/en/publications/7538d885-baae-4d47-b618-164f75ee82c9

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease

Autor: Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griff

Publikováno v: New England journal of medicine (Online) (2009).
info:cnr-pdr/source/autori:Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griff/titolo:Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease./doi:/rivista:New England journal of medicine (Online)/anno:2009/pagina_da:/pagina_a:/intervallo_pagine:/volume

BACKGROUND: Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain the frequency of GBA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::6a89dd2c305ef1ae4da7c180d5411a7b
https://publications.cnr.it/doc/50023

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

Autor: Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Antonini, A, Oostra BA, Bonifati V.

Publikováno v: Neurology, 68(19), 1557-1562. Lippincott Williams & Wilkins

To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD).We studied 46 patients, mostly from Ital

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32892b6ce802f30bac6081a3b6af30f4
http://hdl.handle.net/11585/45636