Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Josja Graafland"'
Autor:
Josja Graafland, Gulin Sunter, Yunus Diler, Murat Gultekin, Zeynep Tufekcioglu, Esen Saka, Ayse Destina Yalcin, Tuğrul Doğan, Demy J.S. Kuipers, Vincenzo Bonifati, Murat Emre, Bulent Elibol, Marialuisa Quadri, Simone Olgiati, Başar Bilgiç, Reyhan Surmeli, Hakan Kaleagasi, Guido J. Breedveld, Okan Dogu, Hasmet Hanagasi
Publikováno v:
Parkinsonism & Related Disorders, 39, 64-70. Elsevier
Introduction Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mut
Autor:
Robert M.W. Hofstra, Matej Skorvanek, Zeliha Ozgur, Vincenzo Bonifati, Kees Schoonderwoerd, Simone Olgiati, Robert Jech, Frans W. Verheijen, Mirjam C G N van den Hout, Michelle Minneboo, Josja Graafland, Wim Mandemakers, Zuzana Gdovinova, Szu Chia Lai, Vladimir Han, Hsiu Chen Chang, Hsin Fen Chien, Ramon Bonte, Guido J. Breedveld, Tu Hsueh Yeh, Wilfred F. J. van IJcken, Marialuisa Quadri, Anneke J.A. Kievit, Egberto Reis Barbosa, Yah Huei Wu-Chou, George J. G. Ruijter, Chin Song Lu
Publikováno v:
Movement Disorders. 31:1041-1048
Background ECHS1 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 objec
Autor:
Guido J. Breedveld, Josja Graafland, Janneke P.M.A. Rood, Laura Bannach Jardim, Vincenzo Bonifati, Jianguo Zhang, Frans W. Verheijen, Wim Mandemakers, Egberto Reis Barbosa, Anneke J.A. Kievit, Jonas Alex Morales Saute, Christian G. Bouwkamp, Carlos Roberto de Mello Rieder, Klaus L. Leenders, Hsin Fen Chien, Agnita J.W. Boon, Marialuisa Quadri, Michelle Minneboo, Jun Wang, Mingyan Fang, Simone Olgiati
Publikováno v:
Annals of Neurology. 79:244-256
Objective DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age
Autor:
Vincenzo Bonifati, Medha Goel, Josja Graafland, Guido J. Breedveld, Virupaxi Hattiholi, Satinder Aneja, DM Mahesh Kamate Md, Parveen Gulati, Indu Kori, Atin Kumar, Marialuisa Quadri, Simone Olgiati, Bibek Talukdar, DM Puneet Jain Md, DM Suvasini Sharma Md
Publikováno v:
Movement Disorders. 30:996-1001
Background SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn erro
Autor:
Josja Graafland, Marialuisa Quadri, Vincenzo Bonifati, Guido J. Breedveld, Astrid Thomas, Annelies de Klein, Marco Onofrj, H.J. Eussen, Hannie Douben, Simone Olgiati
Publikováno v:
Parkinsonism & Related Disorders, 21(8), 981-986. Elsevier
Introduction: Triplications of SNCA, the gene encoding for a-synuclein, cause a very rare Mendelian form of early-onset parkinsonism combined with cognitive and autonomic dysfunctions. Only six families with SNCA triplications have been described so
Autor:
Mariachiara Sensi, Vittorio Rispoli, Josja Graafland, Elisabetta Groppo, Giovanni Fabbrini, Marialuisa Quadri, Simone Olgiati, Guido J. Breedveld, Vincenzo Bonifati, Alfredo Berardelli, Francesca Gualandi
Publikováno v:
Movement Disorders. 31:765-767
Autor:
Marialuisa, Quadri, Mahesh, Kamate, Suvasini, Sharma, Simone, Olgiati, Josja, Graafland, Guido J, Breedveld, Indu, Kori, Virupaxi, Hattiholi, Puneet, Jain, Satinder, Aneja, Atin, Kumar, Parveen, Gulati, Medha, Goel, Bibek, Talukdar, Vincenzo, Bonifati
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 30(7)
SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn met
Autor:
Josja Graafland, Francesca Gualandi, Vincenzo Bonifati, Elisabetta Groppo, Vittorio Rispoli, Guido J. Breedveld, Marialuisa Quadri, Giovanni Fabbrini, Mariachiara Sensi, Simone Olgiati
Publikováno v:
Parkinsonism & Related Disorders. 22:e135-e136
Autor:
Mario Ezquerra, Claudio Mariani, Josja Graafland, Vincenzo Bonifati, Monica Gagliardi, Leonor Correia Guedes, Jun Wang, Francesc Valldeoriola, Valeria Saddi, Stefano Goldwurm, Eduardo Tolosa, Rosanna Asselta, Limei Ouyang, Patrizia Tarantino, Giovanni Cossu, Gianni Pezzoli, Ben A. Oostra, Na Xu, Maurizio Melis, María José Martí, Aldo Quattrone, Joaquim J. Ferreira, Valeria Ricchi, Daniela Murgia, Marialuisa Quadri, Guido J. Breedveld, Jing-Chu Hu, Simone Olgiati, Grazia Annesi, Xu Yang
Publikováno v:
ResearcherID
Movement disorders 29 (2015): S60–S60. doi:10.1007/s10048-014-0425-x
info:cnr-pdr/source/autori:Quadri, M.; Yang, X.; Cossu, G.; Olgiati, S.; Saddi, V.; Breedveld, G. J.; Ouyang, L.; Hu, J.; Xu, N.; Graafland, J.; Ricchi, V.; Murgia, D.; Guedes, L. Correia; Mariani, C.; Marti, M. J.; Tarantino, P.; Asselta, R.; Valldeoriola, F.; Gagliardi, M.; Pezzoli, G.; Ezquerra, M.; Quattrone, A.; Ferreira, J.; Annesi, G.; Goldwurm, S.; Tolosa, E.; Oostra, B. A.; Melis, M.; Wang, J.; Bonifati, V./titolo:An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate/doi:10.1007%2Fs10048-014-0425-x/rivista:Movement disorders/anno:2015/pagina_da:S60/pagina_a:S60/intervallo_pagine:S60–S60/volume:29
Neurogenetics, 16(1), 55-64. Springer-Verlag
Movement disorders 29 (2015): S60–S60. doi:10.1007/s10048-014-0425-x
info:cnr-pdr/source/autori:Quadri, M.; Yang, X.; Cossu, G.; Olgiati, S.; Saddi, V.; Breedveld, G. J.; Ouyang, L.; Hu, J.; Xu, N.; Graafland, J.; Ricchi, V.; Murgia, D.; Guedes, L. Correia; Mariani, C.; Marti, M. J.; Tarantino, P.; Asselta, R.; Valldeoriola, F.; Gagliardi, M.; Pezzoli, G.; Ezquerra, M.; Quattrone, A.; Ferreira, J.; Annesi, G.; Goldwurm, S.; Tolosa, E.; Oostra, B. A.; Melis, M.; Wang, J.; Bonifati, V./titolo:An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate/doi:10.1007%2Fs10048-014-0425-x/rivista:Movement disorders/anno:2015/pagina_da:S60/pagina_a:S60/intervallo_pagine:S60–S60/volume:29
Neurogenetics, 16(1), 55-64. Springer-Verlag
Parkinson's disease (PD) is a common neurodegenerative disorder of complex aetiology. Rare, highly penetrant PD-causing mutations and common risk factors of small effect size have been identified in several genes/loci. However, these mutations and ri