AAAAAA
Results: 1-25/87
Authors:
Bonifati, V
De Michele, G
Lucking, CB
Durr, A
Fabrizio, E
Ambrosio, G
Vanacore, N
De Mari, M
Marconi, R
Capus, L
Breteler, MMB
Gasser, T
Oostra, B
Wood, N
Agid, Y
Filla, A
Meco, G
Brice, A
Citation: V. Bonifati et al., The parkin gene and its phenotype, NEUROL SCI, 22(1), 2001, pp. 51-52
Authors:
Tallaksen, CME
Durr, A
Brice, A
Citation: Cme. Tallaksen et al., Recent advances in hereditary spastic paraplegia, CURR OP NEU, 14(4), 2001, pp. 457-463
Authors:
Holmes, SE
O'Hearn, E
Rosenblatt, A
Callahan, C
Hwang, HS
Ingersoll-Ashworth, RG
Fleisher, A
Stevanin, G
Brice, A
Potter, NT
Ross, CA
Margolis, RL
Citation: Se. Holmes et al., A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2, NAT GENET, 29(4), 2001, pp. 377-378
Authors:
Baulac, S
Huberfeld, G
Gourfinkel-An, I
Mitropoulou, G
Beranger, A
Prud'homme, JF
Baulac, M
Brice, A
Bruzzone, R
LeGuern, E
Citation: S. Baulac et al., First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma 2-subunit gene, NAT GENET, 28(1), 2001, pp. 46-48
Authors:
Verpillat, P
Bouley, S
Campion, D
Hannequin, D
Dubois, B
Belliard, S
Puel, M
Thomas-Anterion, C
Agid, Y
Brice, A
Clerget-Darpoux, F
Citation: P. Verpillat et al., Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population, EUR J HUM G, 9(6), 2001, pp. 464-468
Authors:
Guilbot, A
Williams, A
Ravise, N
Verny, C
Brice, A
Sherman, DL
Brophy, PJ
LeGuern, E
Delague, V
Bareil, C
Megarbane, A
Claustres, M
Citation: A. Guilbot et al., A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease, HUM MOL GEN, 10(4), 2001, pp. 415-421
Authors:
Zander, C
Takahashi, J
El Hachimi, KH
Fujigasaki, H
Albanese, V
Lebre, AS
Stevanin, G
Duyckaerts, C
Brice, A
Citation: C. Zander et al., Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3, HUM MOL GEN, 10(22), 2001, pp. 2569-2579
Authors:
Lebre, AS
Jamot, L
Takahashi, J
Spassky, N
Leprince, C
Ravise, N
Zander, C
Fujigasaki, H
Kussel-Andermann, P
Duyckaerts, C
Camonis, JH
Brice, A
Citation: As. Lebre et al., Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions, HUM MOL GEN, 10(11), 2001, pp. 1201-1213
Authors:
Dubourg, O
Tardieu, S
Birouk, N
Gouider, R
Leger, JM
Maisonobe, T
Brice, A
Bouche, P
LeGuern, E
Citation: O. Dubourg et al., The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity, NEUROMUSC D, 11(5), 2001, pp. 458-463
Authors:
Baulac, S
An-Gourfinkel, I
Prud'homme, JF
Baulac, M
Bruzzone, R
Brice, A
Le Guern, E
Citation: S. Baulac et al., First genetic evidence of GABA(A) receptor dysfunction in epilepsy, M S-MED SCI, 17(8-9), 2001, pp. 908-909
Authors:
Baulac, S
An, I
Brice, A
Le Guern, E
Citation: S. Baulac et al., Epilepsy, febrile seizures and ion channels, M S-MED SCI, 17(10), 2001, pp. 999-1007
Authors:
Corti, O
Brice, A
Citation: O. Corti et A. Brice, Parkin and Parkinson's: More than homonymy?, ANN NEUROL, 50(3), 2001, pp. 283-285
Authors:
Baulac, S
Picard, F
Herman, A
Feingold, J
Genin, E
Hirsch, E
Prud'homme, JF
Baulac, M
Brice, A
LeGuern, E
Citation: S. Baulac et al., Evidence for digenic inheritance in a family with both febrile convulsionsand temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31, ANN NEUROL, 49(6), 2001, pp. 786-792
Authors:
Fujigasaki, H
Verma, IC
Camuzat, A
Margolis, RL
Zander, C
Lebre, AS
Jamot, L
Saxena, R
Anand, I
Holmes, SE
Ross, CA
Durr, A
Brice, A
Citation: H. Fujigasaki et al., SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study ofan Indian family, ANN NEUROL, 49(1), 2001, pp. 117-121
Authors:
Lucking, CB
Bonifati, V
Periquet, M
Vanacore, N
Brice, A
Meco, G
Citation: Cb. Lucking et al., Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations, NEUROLOGY, 57(5), 2001, pp. 924-927
Authors:
Vidailhet, M
Tassin, J
Durif, F
Nivelon-Chevallier, A
Agid, Y
Brice, A
Durr, A
Citation: M. Vidailhet et al., A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q, NEUROLOGY, 56(9), 2001, pp. 1213-1216
Authors:
van de Warrenburg, BPC
Lammens, M
Lucking, CB
Denefle, P
Wesseling, P
Booij, J
Praamstra, P
Quinn, N
Brice, A
Horstink, MWIM
Citation: Bpc. Van De Warrenburg et al., Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations, NEUROLOGY, 56(4), 2001, pp. 555-557
Authors:
Bonifati, V
Lucking, CB
Fabrizio, E
Periquet, M
Meco, G
Brice, A
Citation: V. Bonifati et al., Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism, J NE NE PSY, 71(4), 2001, pp. 531-534
Authors:
Zarate-Lagunes, M
Gu, WJ
Blanchard, V
Francois, C
Muriel, MP
Mouatt-Prigent, A
Bonici, B
Parent, A
Hartmann, A
Yelnik, J
Boehme, GA
Pradier, L
Moussaoui, S
Faucheux, B
Raisman-Vozari, R
Agid, Y
Brice, A
Hirsch, EC
Citation: M. Zarate-lagunes et al., Parkin immunoreactivity in the brain of human and non-human primates: An immunohistochemical analysis in normal conditions and in Parkinsonian syndromes, J COMP NEUR, 432(2), 2001, pp. 184-196
CAG repeat expansion in the TATA box-binding protein gene causes autosomaldominant cerebellar ataxia
Authors:
Fujigasaki, H
Martin, JJ
De Deyn, PP
Camuzat, A
Deffond, D
Stevanin, G
Dermaut, B
Van Broeckhoven, C
Durr, A
Brice, A
Citation: H. Fujigasaki et al., CAG repeat expansion in the TATA box-binding protein gene causes autosomaldominant cerebellar ataxia, BRAIN, 124, 2001, pp. 1939-1947
Authors:
Dubourg, O
Tardieu, S
Birouk, N
Gouider, R
Leger, JM
Maisonobe, T
Brice, A
Bouche, P
LeGuern, E
Citation: O. Dubourg et al., Clinical, electrophysiological and molecular genetic characteristics of 93patients with X-linked Charcot-Marie-Tooth disease, BRAIN, 124, 2001, pp. 1958-1967
Authors:
Durr, A
Brassat, D
Brice, A
Citation: A. Durr et al., The DYT1 mutation and nonfamilial primary torsion dystonia - In reply, ARCH NEUROL, 58(4), 2001, pp. 682-682
Authors:
Periquet, M
Lucking, CB
Vaughan, JR
Bonifati, V
Durr, A
De Michele, G
Horstink, MW
Farrer, M
Illarioshkin, SN
Pollak, P
Borg, M
Brefel-Courbon, C
Denefle, P
Meco, G
Gasser, T
Breteler, MMB
Wood, NW
Agid, Y
Brice, A
Citation: M. Periquet et al., Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects, AM J HU GEN, 68(3), 2001, pp. 617-626
Authors:
Gaspar, C
Lopes-Cendes, I
Hayes, S
Goto, J
Arvidsson, K
Dias, A
Silveira, I
Maciel, P
Coutinho, P
Lima, M
Zhou, YX
Soong, BW
Watanabe, M
Giunti, P
Stevanin, G
Riess, O
Sasaki, H
Hsieh, M
Nicholson, GA
Brunt, E
Higgins, JJ
Lauritzen, M
Tranebjaerg, L
Volpini, V
Wood, N
Ranum, L
Tsuji, S
Brice, A
Sequeiros, J
Rouleau, GA
Citation: C. Gaspar et al., Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study, AM J HU GEN, 68(2), 2001, pp. 523-528
Authors:
Lucking, CB
Brice, A
Citation: Cb. Lucking et A. Brice, Alpha-synuclein and Parkinson's disease, CELL MOL L, 57(13-14), 2000, pp. 1894-1908