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Maria Paula Mourao do Amaral Coutinho
AuthID:
R-000-CFK
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (67)
Letter (4)
Note (2)
Erratum (1)
Proceedings Paper (1)
Abstract (1)
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Order:
Year Dsc
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Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
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Title Dsc
Results:
10
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30
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Confirmed Publications: 76
31
TITLE:
Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement
AUTHORS:
Maciel, P
;
Cruz, VT
; Constante, M;
Iniesta, I
;
Costa, MC
; Gallati, S;
Sousa, N
;
Sequeiros, J
;
Coutinho, P
; Santos, MM;
PUBLISHED:
2005
,
SOURCE:
NEUROLOGY,
VOLUME:
65,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
80
IN MY:
ORCID
32
TITLE:
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal
AUTHORS:
Lima, M
;
Costa, MC
;
Montiel, R
; Ferro, A; Santos, C; Silva, C; Bettencourt, C;
Sousa, A
;
Sequeiros, J
;
Coutinho, P
;
Maciel, P
;
PUBLISHED:
2005
,
SOURCE:
HUMAN HEREDITY,
VOLUME:
60,
ISSUE:
3
INDEXED IN:
Scopus
WOS
33
TITLE:
A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha(1A)-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. Letter to the Editor
Full Text
AUTHORS:
Alonso, I
;
Barros, José
; Tuna, A;
Seixas, A
;
Coutinho, P
;
Sequeiros, J
;
Silveira, I
;
PUBLISHED:
2004
,
SOURCE:
CLINICAL GENETICS,
VOLUME:
65,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
34
TITLE:
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
AUTHORS:
Durr, A; Camuzat, AS; Colin, E;
Tallaksen, C
; Hannequin, D;
Coutinho, P
; Fontaine, B; Rossi, A; Gil, R; Rousselle, C; Ruberg, M;
Stevanin, G
; Brice, A;
PUBLISHED:
2004
,
SOURCE:
ARCHIVES OF NEUROLOGY,
VOLUME:
61,
ISSUE:
12
INDEXED IN:
Scopus
WOS
35
TITLE:
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
Full Text
AUTHORS:
Moreira, MC
; Klur, S; Watanabe, M; Nemeth, AH; Le Ber, I; Moniz, JC; Tranchant, C; Aubourg, P; Tazir, M; Schols, L; Pandolfo, M; Schulz, JB; Pouget, J; Calvas, P; Shizuka Ikeda, M; Shoji, M; Tanaka, M; Izatt, L; Shaw, CE; M'Zahem, A;
Dunne, E;
Bomont, P;
Benhassine, T
;
Bouslam, N;
Stevanin, G
;
Brice, A;
Guimaraes, J;
Mendonca, P;
Barbot, C
;
Coutinho, P
;
Sequeiros, J
;
Durr, A;
Warter, JM
;
Koenig, M;
...More
PUBLISHED:
2004
,
SOURCE:
NATURE GENETICS,
VOLUME:
36,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
36
TITLE:
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: Clinical and neurophysiological studies
Full Text
AUTHORS:
Conceicao, I; Sales Luis, ML; De Carvalho, M; Evangelista, T;
Fernandes, R
; Paunio, T;
Kangas, H
;
Coutinho, P
;
Neves, C
;
Saraiva, MJ
;
PUBLISHED:
2003
,
SOURCE:
MUSCLE & NERVE,
VOLUME:
28,
ISSUE:
6
INDEXED IN:
Scopus
WOS
CrossRef
:
30
IN MY:
ORCID
37
TITLE:
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family
AUTHORS:
Alonso, I
;
Barros, José
; Tuna, A; Coelho, J;
Sequeiros, J
;
Silveira, I
;
Coutinho, P
;
PUBLISHED:
2003
,
SOURCE:
ARCHIVES OF NEUROLOGY,
VOLUME:
60,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
38
TITLE:
Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin
Full Text
AUTHORS:
Martins, S
;
Matama, T
;
Guimaraes, L
; Vale, J; Guimaraes, J; Ramos, L;
Coutinho, P
;
Sequeiros, J
;
Silveira, I
;
PUBLISHED:
2003
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
11,
ISSUE:
10
INDEXED IN:
Scopus
WOS
CrossRef
:
26
IN MY:
ORCID
39
TITLE:
Ocular apraxia in recessive ataxia [1] (multiple letters)
AUTHORS:
Koeppen, AH;
Coutinho, P
;
Barbot, C
;
PUBLISHED:
2002
,
SOURCE:
Archives of Neurology,
VOLUME:
59,
ISSUE:
5
INDEXED IN:
Scopus
IN MY:
ORCID
40
TITLE:
Trinucleotide repeats in 202 families with ataxia - A small expanded (CAG)(n) allele at the SCA17 locus. A Small Expanded (CAG) n Allele at the SCA17 Locus
AUTHORS:
Silveira, I
; Miranda, C;
Guimaraes, L
;
Moreira, MC
;
Alonso, I
; Mendonca, P; Ferro, A; Pinto Basto, J; Coelho, J;
Ferreirinha, F
; Poirier, J; Parreira, E; Vale, J; Januario, C;
Barbot, C
; Tuna, A;
Barros, José
; Koide, R; Tsuji, S; Holmes, SE;
Margolis, RL;
Jardim, L;
Pandolfo, M;
Coutinho, P
;
Sequeiros, J
;
...More
PUBLISHED:
2002
,
SOURCE:
ARCHIVES OF NEUROLOGY,
VOLUME:
59,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
127
IN MY:
ORCID
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