Zobrazeno 1 - 10
of 17
pro vyhledávání: '"C. B. Lücking"'
Autor:
Roberto Marconi, Bouley S, Emmanuel Broussolle, De Michele G, Alexis Brice, Alessandro Filla, Ben A. Oostra, Alexandra Durr, Patrice Denefle, Biswadjiet S. Harhangi, Nicholas W. Wood, C. B. Lücking, Yves Agid, Edito Fabrizio, Bonifati, Giuseppe Meco, Laurent Pradier, Vaughan, Nacer Abbas, Thomas Gasser, Ricard S, Georg Andrees Bohme, Christine Brefel-Courbon
Publikováno v:
Human Molecular Genetics, 8(4), 567-574. Oxford University Press
Scopus-Elsevier
Scopus-Elsevier
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e38739f37c53c53b1c35d4aa20999aa2
https://doi.org/10.1093/hmg/8.4.567
https://doi.org/10.1093/hmg/8.4.567
Autor:
V. Bonifati, C. B. Lücking, A. Dürr, E. Fabrizio, G. Ambrosio, N. Vanacore, M. D. Mari, R. Marconi, L. Capus, M. M. Breteler, T. Gasser, B. Oostra, N. Wood, Y. Agid, G. Meco, A. Brice, F. P. D., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO
Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset, levodopa-respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::85c48875010e51a55c7484d0ffc41a79
http://hdl.handle.net/11588/483632
http://hdl.handle.net/11588/483632
Autor:
N, Abbas, C B, Lücking, S, Ricard, A, Dürr, V, Bonifati, G, De Michele, S, Bouley, J R, Vaughan, T, Gasser, R, Marconi, E, Broussolle, C, Brefel-Courbon, B S, Harhangi, B A, Oostra, E, Fabrizio, G A, Böhme, L, Pradier, N W, Wood, A, Filla, G, Meco, P, Denefle, Y, Agid, A, Brice
Publikováno v:
ResearcherID
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::157dcc8ddb6df2300cf591ce9af63e60
http://hdl.handle.net/11588/483633
http://hdl.handle.net/11588/483633
Autor:
Martin W.I.M. Horstink, Alexis Brice, Martin Lammens, B.P.C. van de Warrenburg, Peter Praamstra, Niall Quinn, Jan Booij, C. B. Lücking, Pieter Wesseling, Patrice Denefle
Publikováno v:
Neurology, 56, 4, pp. 555--7
Neurology, 56, 555--7
Neurology, 56(4), 555-557. Lippincott Williams and Wilkins
ResearcherID
Neurology, 56, 555--7
Neurology, 56(4), 555-557. Lippincott Williams and Wilkins
ResearcherID
Item does not contain fulltext A Dutch family with autosomal recessive early-onset parkinsonism showed a heterozygous missense mutation in combination with a heterozygous exon deletion in the parkin gene. Although the main clinical syndrome consisted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b898a7f0d4a1085d197675a4c95ac2a6
https://doi.org/10.1212/wnl.56.4.555
https://doi.org/10.1212/wnl.56.4.555
Publikováno v:
Aktuelle Neurologie. 34
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::458443102e227ba8b78677083386b3c5
https://doi.org/10.1055/s-2007-987776
https://doi.org/10.1055/s-2007-987776
Autor:
Cornelia Hampe, Philipp J. Kahle, Nadja Patenge, C. B. Lücking, O. Corti, Martin Dichgans, Alexis Brice, E. Schultz, E. E. Wanker, T. Gasser, S. Deeg, A. Yamamoto, J. C. Dächsel
Publikováno v:
Aktuelle Neurologie. 32
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::619b21c504354b3c7e2d7a376b466333
https://doi.org/10.1055/s-2005-919319
https://doi.org/10.1055/s-2005-919319
Autor:
K. Vaupel, K Genser, E. E. Wanker, C. B. Lücking, Nadja Patenge, J. C. Dächsel, S. Deeg, O. Corti, T. Gasser, Philipp J. Kahle, E. Casademunt, Alexis Brice, E Schulz, Cornelia Hampe, Martin Dichgans
Publikováno v:
Aktuelle Neurologie. 32
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a9a5db891bc0ea0d317151f02aff6fc
https://doi.org/10.1055/s-2005-866696
https://doi.org/10.1055/s-2005-866696
Autor:
Alexis Brice, C. B. Lücking
Publikováno v:
Cellular and molecular life sciences : CMLS. 57(13-14)
The involvement of alpha-synuclein in neurodegenerative diseases was first suspected after the isolation of an alpha-synuclein fragment (NAC) from amyloid plaques in Alzheimer's disease (AD). Later, two different alpha-synuclein mutations were shown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68bf117bd57c59251513027f4cbc21d
https://pubmed.ncbi.nlm.nih.gov/11215516
https://pubmed.ncbi.nlm.nih.gov/11215516
Autor:
Magali Periquet, Alexis Brice, Vincenzo Bonifati, Nicola Vanacore, C. B. Lücking, Giuseppe Meco
The authors report an Italian family with pseudo-dominant inheritance of parkinsonism attributable to parkin gene mutations. The father (disease onset at age 57 years) was homozygous for a triplication of exon 2 that is so far unique. The unaffected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78bcf853b7982e3bad3c74f6606961fe
http://hdl.handle.net/11573/91787
http://hdl.handle.net/11573/91787
Autor:
Philippe Remy, N. Ginovart, Alexandra Durr, Pierre Pollak, C. B. Lücking, Emmanuel Broussolle
Publikováno v:
Neurology. 55(6)
Article abstract—Parkin gene mutations cause a form of early-onset autosomal recessive PD with neuronal loss in the substantia nigra and no Lewy bodies. The authors present a PET [18F]-dopa study of one familial and two sporadic cases with juvenile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ce9e73f26f898c5f9c422c8c94a722
https://pubmed.ncbi.nlm.nih.gov/10994015
https://pubmed.ncbi.nlm.nih.gov/10994015