Zobrazeno 1 - 10
of 1 940
pro vyhledávání: '"ANDERMANN, F."'
Autor:
Battino, D *, Kaneko, S, Andermann, E, Avanzini, G, Canevini, M.P, Canger, R, Croci, D, Fumarola, C, Guidolin, L, Mamoli, D, Molteni, F, Pardi, G, Vignoli, A, Fukushima, Y, Kan, R, Takeda, A, Nakane, Y, Ogawa, Y, Dansky, L, Oguni, M, Lopez-Ciendas, I, Sherwin, A, Andermann, F, Seni, M.-H, Otani, K, Teranishi, T, Goto, M
Publikováno v:
In Epilepsy Research 1999 36(1):53-60
Autor:
Kaneko, S a, *, Battino, D c, Andermann, E d, Wada, K a, Kan, R e, Takeda, A f, Nakane, Y g, Ogawa, Y b, Avanzini, G c, Fumarola, C h, Granata, T c, Molteni, F h, Pardi, G h, Minotti, L h, Canger, R i, Dansky, L d, Oguni, M d, Lopes-Cendas, I d, Sherwin, A d, Andermann, F d, Seni, M.-H d, Okada, M a, Teranishi, T j
Publikováno v:
In Epilepsy Research 1999 33(2):145-158
Autor:
Andermann, E., Anna Jansen, Al-Asmi, A., Dobson-Stone, C., Monaco, A. P., Lang, A., Robert, F., Badhwar, A., Mercho, S., Dubeau, F., Danek, A., Andermann, F.
Publikováno v:
ResearcherID
Purpose: Chorea-acanthocytosis (CHAC) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21, and characterised by neurodegeneration and acanthocytosis. Seizures are not uncommon in CHAC, but have not been well characteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::810708ac235294a29b4e7f87be984251
https://ora.ox.ac.uk/objects/uuid:4423e0ab-2447-49ef-b036-1cc2faebb941
https://ora.ox.ac.uk/objects/uuid:4423e0ab-2447-49ef-b036-1cc2faebb941
Autor:
Ptacek, Louis, Viollet, L, Glusman, G, Murphy, KJ, Newcomb, TM, Reyna, SP, Sweney, M, Nelson, B, Andermann, F, Andermann, E, Acsadi, G
Publikováno v:
Ptacek, Louis; Viollet, L; Glusman, G; Murphy, KJ; Newcomb, TM; Reyna, SP; et al.(2015). Alternating hemiplegia of childhood: Retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/5g44z546
© 2015 Viollet et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::c3ac560bcc2d73248153455efcc04f75
http://www.escholarship.org/uc/item/5g44z546
http://www.escholarship.org/uc/item/5g44z546
Autor:
Luijtelaar, E.L.J.M. van, Sitnikova, E.Y., Midzyanovskaya, I.S., Hirsch, E., Andermann, F., Chauvel, P., Engel, J., Lopes da Silva, F., Luders, H.
Publikováno v:
Hirsch, E.; Andrmann, F.; Chauvel, P. (ed.), Generalized seizures: from clinical phenomenology to underlying systems and networks, pp. 93-117
Progress in Epileptic Disorders ; 2, 93-117. Montrouge : John Libbey Eurotext
STARTPAGE=93;ENDPAGE=117;TITLE=Progress in Epileptic Disorders ; 2
Hirsch, E.; Andermann, F.; Chauvel, P. (ed.), Generalized seizures: from clinical phenomenology to underlying systems and networks, pp. 93-117
Progress in Epileptic Disorders, 93-117. Montrouge [etc.] : ohn Libbey Eurotext
STARTPAGE=93;ENDPAGE=117;TITLE=Progress in Epileptic Disorders
Progress in Epileptic Disorders ; 2, 93-117. Montrouge : John Libbey Eurotext
STARTPAGE=93;ENDPAGE=117;TITLE=Progress in Epileptic Disorders ; 2
Hirsch, E.; Andermann, F.; Chauvel, P. (ed.), Generalized seizures: from clinical phenomenology to underlying systems and networks, pp. 93-117
Progress in Epileptic Disorders, 93-117. Montrouge [etc.] : ohn Libbey Eurotext
STARTPAGE=93;ENDPAGE=117;TITLE=Progress in Epileptic Disorders
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::57182820b2a2d3188e7d85cf36aa492c
https://hdl.handle.net/2066/56780
https://hdl.handle.net/2066/56780
Autor:
Anna Jansen, Cao, H., Kaplan, P., Silver, K., Leonard, G., Veilleux, M., Andermann, F., Hegele, R. A., Andermann, E.
Publikováno v:
ResearcherID
Background: Mucopolysaccharidosis IIID or Sanfilippo s?a~drome type D is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GNS gene on chromosome 12q14. Mutations result in absent or decreased levels of the enzyme N-ace
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fb096a41d2b362faada4fbad6d024ebf
https://biblio.vub.ac.be/vubir/two-siblings-with-mps-iiid-clinical-followup-and-identification-of-a-novel-mutation-in-the-gns-gene(f4c0a3d4-e211-4998-a970-4696e1155252).html
https://biblio.vub.ac.be/vubir/two-siblings-with-mps-iiid-clinical-followup-and-identification-of-a-novel-mutation-in-the-gns-gene(f4c0a3d4-e211-4998-a970-4696e1155252).html
Autor:
Anna Jansen, Cao, H., Kaplan, P., Silver, K., Meirleir, L., Lissens, W., Veilleux, M., Andermann, F., Hegele, R. A., Andermann, E.
Publikováno v:
ResearcherID
Background: Mucopolysaccharidosis (MPS) IIID or Sanfilippo syndrome type D is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GNS gene. Mutations result in absent or decreased levels of N-acetylglucosamine 6-sulfatase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::587590a72c1c8770de5b6e04a6b35e67
https://hdl.handle.net/20.500.14017/241330cc-2a31-45b3-9884-ab8ad2dfaff5
https://hdl.handle.net/20.500.14017/241330cc-2a31-45b3-9884-ab8ad2dfaff5
Autor:
Andermann, F., Anna Jansen, Dubeau, F., Chouinard, S., Robert, F., Lang, A., Dobson-Stone, C., Danek, A., Monaco, A., Andermann, E.
Publikováno v:
ResearcherID
Purpose: To characterise the clinical and molecular findings in French Canadian (FC) families with chorea-acanthocytosis, and to determine genotype-phenotype correlations. Method:We ascertained 12 affected individuals in four families. Detailed medic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c0ae0b982416221269ad24b86a350f00
https://biblio.vub.ac.be/vubir/choreaacanthocytosis-chac-in-french-canadians-founder-effect-seizure-characterisation-and-genotypephenotype-correlations(81e9e170-8ef2-4d9f-b973-564a8f220f75).html
https://biblio.vub.ac.be/vubir/choreaacanthocytosis-chac-in-french-canadians-founder-effect-seizure-characterisation-and-genotypephenotype-correlations(81e9e170-8ef2-4d9f-b973-564a8f220f75).html
Autor:
Andermann, E., Anna Jansen, Andermann, F., Dubeau, F., Chouinard, S., Robert, F., Lang, A., Danek, A., Velayos-Baeza, A., Dobson-Stone, C., Monaco, A.
Publikováno v:
ResearcherID
Anna Jansen
Anna Jansen
x
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::91ace81280eaf91c23f8b6d8104b0a68
https://biblio.vub.ac.be/vubir/frenchcanadian-choreaacanthocytosis(b77d1db0-21f8-4d8e-bb10-2feec2565dc3).html
https://biblio.vub.ac.be/vubir/frenchcanadian-choreaacanthocytosis(b77d1db0-21f8-4d8e-bb10-2feec2565dc3).html