Detalhe da pesquisa
1.
RFC1: Motifs and phenotypes.
Rev Neurol (Paris)
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627134
2.
Strategy for genetic analysis in hereditary neuropathy.
Rev Neurol (Paris)
; 179(1-2): 10-29, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36566124
3.
Electro-clinical presentation of hereditary transthyretin related amyloidosis when presenting as a polyneuropathy of unknown origin in northern France.
Rev Neurol (Paris)
; 177(9): 1160-1167, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34253345
4.
Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.
Biochim Biophys Acta
; 1842(4): 654-64, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24440524
5.
Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.
Biochim Biophys Acta
; 1812(7): 732-42, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21439371
6.
[Pathognomonic ERG predicting the genetic diagnosis: Cone dystrophy with supernormal rod response]. / Un ERG pathognomonique prédit le diagnostic génétique : dystrophie des cônes avec réponse supranormale des bâtonnets.
J Fr Ophtalmol
; 44(9): 1471-1473, 2021 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-34462148
7.
Association of corticobasal degeneration and Huntington's disease: can Tau aggregates protect Huntingtin toxicity?
Mov Disord
; 24(7): 1089-90, 2009 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19243029
8.
[Biological markers in Alzheimer disease: what are the chances for less slow diagnosis?]. / Les marqueurs biologiques de la maladie d'Alzheimer: quel intérêt pour un diagnostic moins tardif?
Rev Neurol (Paris)
; 165 Spec No 2: F97-103, 2009 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-19593884
9.
[Triple hyperautofluorescent retinal ring. Pathognomonic appearance of c.166G>A NR2E3-related inherited retinal degeneration]. / Triple anneau d'hyperautofluorescence rétinienne. Aspect pathognomonique d'une dystrophie rétinienne liée à la mutation c.166G>A dans le gène NR2E3.
J Fr Ophtalmol
; 42(3): 332-333, 2019 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-30850196
10.
Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.
Exp Neurol
; 210(2): 467-78, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18177861