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    1. 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
      The parkin gene and its phenotype

      NEUROLOGICAL SCIENCES
    2. Tallaksen, CME; Durr, A; Brice, A
      Recent advances in hereditary spastic paraplegia

      CURRENT OPINION IN NEUROLOGY
    3. 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
      A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

      NATURE GENETICS
    4. Baulac, S; Huberfeld, G; Gourfinkel-An, I; Mitropoulou, G; Beranger, A; Prud'homme, JF; Baulac, M; Brice, A; Bruzzone, R; LeGuern, E
      First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma 2-subunit gene

      NATURE GENETICS
    5. Verpillat, P; Bouley, S; Campion, D; Hannequin, D; Dubois, B; Belliard, S; Puel, M; Thomas-Anterion, C; Agid, Y; Brice, A; Clerget-Darpoux, F
      Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population

      EUROPEAN JOURNAL OF HUMAN GENETICS
    6. Guilbot, A; Williams, A; Ravise, N; Verny, C; Brice, A; Sherman, DL; Brophy, PJ; LeGuern, E; Delague, V; Bareil, C; Megarbane, A; Claustres, M
      A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

      HUMAN MOLECULAR GENETICS
    7. Zander, C; Takahashi, J; El Hachimi, KH; Fujigasaki, H; Albanese, V; Lebre, AS; Stevanin, G; Duyckaerts, C; Brice, A
      Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3

      HUMAN MOLECULAR GENETICS
    8. 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
      Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions

      HUMAN MOLECULAR GENETICS
    9. Dubourg, O; Tardieu, S; Birouk, N; Gouider, R; Leger, JM; Maisonobe, T; Brice, A; Bouche, P; LeGuern, E
      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

      NEUROMUSCULAR DISORDERS
    10. Baulac, S; An-Gourfinkel, I; Prud'homme, JF; Baulac, M; Bruzzone, R; Brice, A; Le Guern, E
      First genetic evidence of GABA(A) receptor dysfunction in epilepsy

      M S-MEDECINE SCIENCES
    11. Baulac, S; An, I; Brice, A; Le Guern, E
      Epilepsy, febrile seizures and ion channels

      M S-MEDECINE SCIENCES
    12. Corti, O; Brice, A
      Parkin and Parkinson's: More than homonymy?

      ANNALS OF NEUROLOGY
    13. Baulac, S; Picard, F; Herman, A; Feingold, J; Genin, E; Hirsch, E; Prud'homme, JF; Baulac, M; Brice, A; LeGuern, E
      Evidence for digenic inheritance in a family with both febrile convulsionsand temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31

      ANNALS OF NEUROLOGY
    14. 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
      SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study ofan Indian family

      ANNALS OF NEUROLOGY
    15. Lucking, CB; Bonifati, V; Periquet, M; Vanacore, N; Brice, A; Meco, G
      Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations

      NEUROLOGY
    16. Vidailhet, M; Tassin, J; Durif, F; Nivelon-Chevallier, A; Agid, Y; Brice, A; Durr, A
      A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q

      NEUROLOGY
    17. van de Warrenburg, BPC; Lammens, M; Lucking, CB; Denefle, P; Wesseling, P; Booij, J; Praamstra, P; Quinn, N; Brice, A; Horstink, MWIM
      Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations

      NEUROLOGY
    18. Bonifati, V; Lucking, CB; Fabrizio, E; Periquet, M; Meco, G; Brice, A
      Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    19. 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
      Parkin immunoreactivity in the brain of human and non-human primates: An immunohistochemical analysis in normal conditions and in Parkinsonian syndromes

      JOURNAL OF COMPARATIVE NEUROLOGY
    20. Fujigasaki, H; Martin, JJ; De Deyn, PP; Camuzat, A; Deffond, D; Stevanin, G; Dermaut, B; Van Broeckhoven, C; Durr, A; Brice, A
      CAG repeat expansion in the TATA box-binding protein gene causes autosomaldominant cerebellar ataxia

      BRAIN
    21. Dubourg, O; Tardieu, S; Birouk, N; Gouider, R; Leger, JM; Maisonobe, T; Brice, A; Bouche, P; LeGuern, E
      Clinical, electrophysiological and molecular genetic characteristics of 93patients with X-linked Charcot-Marie-Tooth disease

      BRAIN
    22. Durr, A; Brassat, D; Brice, A
      The DYT1 mutation and nonfamilial primary torsion dystonia - In reply

      ARCHIVES OF NEUROLOGY
    23. 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
      Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. 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
      Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. Lucking, CB; Brice, A
      Alpha-synuclein and Parkinson's disease

      CELLULAR AND MOLECULAR LIFE SCIENCES
    26. Escayg, A; MacDonald, BT; Meisler, MH; Baulac, S; Huberfeld, G; An-Gourfinkel, I; Brice, A; LeGuern, E; Moulard, B; Chaigne, D; Buresi, C; Malafosse, A
      Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

      NATURE GENETICS
    27. Stevanin, G; Herman, A; Durr, A; Jodice, C; Frontali, M; Agid, Y; Brice, A
      Are (CTG)(n) expansions at the SCA8 locus rare polymorphisms?

      NATURE GENETICS
    28. Zurutuza, L; Verpillat, P; Raux, G; Hannequin, D; Puel, M; Belliard, S; Michon, A; Pothin, Y; Camuzat, A; Penet, C; Martin, C; Brice, A; Campion, D; Clerget-Darpoux, F; Frebourg, T
      APOE promoter polymorphisms do not confer independent risk for Alzheimer'sdisease in a French population

      EUROPEAN JOURNAL OF HUMAN GENETICS
    29. Stevanin, G; Durr, A; Brice, A
      Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

      EUROPEAN JOURNAL OF HUMAN GENETICS
    30. Fonknechten, N; Mavel, D; Byrne, P; Davoine, CS; Cruaud, C; Boentsch, D; Samson, D; Coutinho, P; Hutchinson, M; McMonagle, P; Burgunder, JM; Tartaglione, A; Heinzlef, O; Feki, I; Deufel, T; Parfrey, N; Brice, A; Fontaine, B; Prud'homme, JF; Weissenbach, J; Durr, A; Hazan, J
      Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

      HUMAN MOLECULAR GENETICS
    31. Dubourg, O; Mouton, P; Brice, A; LeGuern, E; Bouche, P
      Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies

      NEUROMUSCULAR DISORDERS
    32. Salih, MAM; Maisonobe, T; Kabiraj, M; Al Rayess, M; Al-Turaiki, MHS; Akbar, M; Tahan, A; Urtizberea, JA; Grid, D; Hamadouche, T; Guilbot, A; Brice, A; Leguern, E
      Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

      NEUROMUSCULAR DISORDERS
    33. Illarioshkin, SN; Ivanova-Smolenskaya, IA; Rahmonov, RA; Markova, ED; Stevanin, G; Brice, A
      Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan

      MOVEMENT DISORDERS
    34. Durr, A; Lucking, C; Brice, A
      Parkin gene mutations and Parkinson's disease

      M S-MEDECINE SCIENCES
    35. Verpillat, P; Bouley, S; Hannequin, D; Belliard, S; Puel, M; Thomas-Anterion, C; Dubois, B; Agid, Y; Campion, D; Clerget-Darpoux, F; Brice, A
      alpha 2-macroglobulin gene and Alzheimer's disease: Confirmation of association by haplotypes analyses

      ANNALS OF NEUROLOGY
    36. Durr, A; Tassin, J; Vidailhet, M; Durif, F; Jedynak, P; Agid, Y; Brice, A
      D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus

      ANNALS OF NEUROLOGY
    37. Camuzat, A; Verpillat, P; Dubois, B; Penet, C; Agid, CPY; Brice, A; Clerget-Darpoux, F; Moreaud, O; Puel, M; Kinter, J; Kozlov, S; Berger, P; Sonderegger, P; Raux, G; Campion, D; Hannequin, D; Frebourg, T
      Mutations in the neuroserpin gene are rare in familial dementia

      ANNALS OF NEUROLOGY
    38. Illarioshkin, SN; Ivanova-Smolenskaya, IA; Markova, ED; Zagorovskaya, TB; Brice, A
      Lack of alpha-synuclein gene mutations in families with autosomal dominantParkinson's disease in Russia

      JOURNAL OF NEUROLOGY
    39. Zander, C; Yuan, QP; Lindblad, K; Stevanin, G; Durr, A; Davoine, CS; Hazan, J; Fontaine, B; Brice, A; Schalling, M
      No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24

      NEUROSCIENCE LETTERS
    40. Dubourg, O; Barhoumi, C; Azzedine, H; Birouk, N; Brice, A; Bouche, P; Leguern, E
      Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness

      MUSCLE & NERVE
    41. Lucking, CB; Durr, A; Bonifati, V; Vaughan, J; De Michele, G; Gasser, T; Harhangi, BS; Meco, G; Denefle, P; Wood, NW; Agid, Y; Brice, A
      Association between early-onset Parkinson's disease and mutations in the parkin gene

      NEW ENGLAND JOURNAL OF MEDICINE
    42. Raux, G; Gantier, R; Thomas-Anterion, C; Boulliat, J; Verpillat, P; Hannequin, D; Brice, A; Frebourg, T; Campion, D
      Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

      NEUROLOGY
    43. Gu, WJ; Abbas, N; Lagunes, MZ; Parent, A; Pradier, L; Bohme, GA; Agid, Y; Hirsch, EC; Raisman-Vozari, R; Brice, A
      Cloning of rat parkin cDNA and distribution of parkin in rat brain

      JOURNAL OF NEUROCHEMISTRY
    44. Tassin, J; Durr, A; Bonnet, AM; Gil, R; Vidailhet, M; Lucking, CB; Goas, JY; Durif, F; Abada, M; Echenne, B; Motte, J; Lagueny, A; Lacomblez, L; Jedynak, P; Bartholome, B; Agid, Y; Brice, A
      Levodopa-responsive dystonia - GTP cyclohydrolase I or parkin mutations?

      BRAIN
    45. Picard, F; Baulac, S; Kahane, P; Hirsch, E; Sebastianelli, R; Thomas, P; Vigevano, F; Genton, P; Guerrini, R; Gericke, CA; An, I; Rudolf, G; Herman, A; Brice, A; Marescaux, C; LeGuern, E
      Dominant partial epilepsies - A clinical, electrophysiological and geneticstudy of 19 European families

      BRAIN
    46. Cancel, G; Duyckaerts, C; Holmberg, M; Zander, C; Yvert, G; Lebre, AS; Ruberg, M; Faucheux, B; Agid, Y; Hirsch, E; Brice, A
      Distribution of ataxin-7 in normal human brain and retina

      BRAIN
    47. Brassat, D; Camuzat, A; Vidailhet, M; Feki, I; Jedynak, P; Klap, P; Agid, Y; Durr, A; Brice, A
      Frequency of the DYT1 mutation in primary torsion dystonia without family history

      ARCHIVES OF NEUROLOGY
    48. Herman-Bert, A; Stevanin, G; Netter, JC; Rascol, O; Brassat, D; Calvas, P; Camuzat, A; Yuan, QP; Schalling, M; Durr, A; Brice, A
      Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

      AMERICAN JOURNAL OF HUMAN GENETICS
    49. Fontaine, B; Davoine, CS; Durr, A; Paternotte, C; Feki, I; Weissenbach, J; Hazan, J; Brice, A
      A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34

      AMERICAN JOURNAL OF HUMAN GENETICS
    50. Brice, A
      Genome and neurology - The example of Parkinson's disease

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    51. Hazan, J; Fonknechten, N; Mavel, D; Paternotte, C; Samson, D; Artiguenave, F; Davoine, CS; Cruaud, C; Durr, A; Wincker, P; Brottier, P; Cattolico, L; Barbe, V; Burgunder, JM; Prud'homme, JF; Brice, A; Fontaine, B; Heilig, R; Weissenbach, J
      Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

      NATURE GENETICS
    52. Guilbot, A; Ravise, N; Bouhouche, A; Coullin, P; Birouk, N; Maisonobe, T; Kuntzer, T; Vial, C; Grid, D; Brice, A; LeGuern, E
      Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1

      EUROPEAN JOURNAL OF HUMAN GENETICS
    53. Stevanin, G; David, G; Durr, A; Giunti, P; Benomar, A; Abada-Bendib, M; Lee, MS; Agid, Y; Brice, A
      Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G(3145)TG/A(3145)TG)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    54. Grewal, RP; Cancel, G; Leeflang, EP; Durr, A; McPeek, MS; Draghinas, D; Yao, X; Stevanin, G; Alnot, MO; Brice, A; Arnheim, N
      French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis

      HUMAN MOLECULAR GENETICS
    55. Evert, BO; Wullner, U; Schulz, JB; Weller, M; Groscurth, P; Trottier, Y; Brice, A; Klockgether, T
      High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells

      HUMAN MOLECULAR GENETICS
    56. Philippe, A; Martinez, M; Guilloud-Bataille, M; Gillberg, C; Rastam, M; Sponheim, E; Coleman, M; Zappella, M; Aschauer, H; Van Maldergem, L; Penet, C; Feingold, J; Brice, A; Leboyer, M
      Genome-wide scan for autism susceptibility genes (vol 8, pg 805, 1999)

      HUMAN MOLECULAR GENETICS
    57. Philippe, A; Martinez, M; Guilloud-Bataille, M; Gillberg, C; Rastam, M; Sponheim, E; Coleman, M; Zappella, M; Aschauer, H; van Malldergerme, L; Penet, C; Feingold, J; Brice, A; Leboyer, M
      Genome-wide scan for autism susceptibility genes

      HUMAN MOLECULAR GENETICS
    58. Abbas, N; Lucking, CB; Ricard, S; Durr, A; Bonifati, V; De Michele, G; Bouley, S; Vaughan, JR; Gasser, T; Marconi, R; Broussolle, E; Brefel-Courbon, C; Harhangi, BS; Oostra, AB; Fabrizio, E; Bohme, GA; Pradier, L; Wood, NW; Filla, A; Meco, G; Denefle, P; Agid, Y; Brice, A
      A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe

      HUMAN MOLECULAR GENETICS
    59. Lopes, J; Tardieu, S; Silander, K; Blair, I; Vandenberghe, A; Palau, F; Ruberg, M; Brice, A; LeGuern, E
      Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP

      HUMAN MOLECULAR GENETICS
    60. Allard, J; Barron, S; Trottier, S; Cervera, P; Daumas-Duport, C; Leguern, E; Brice, A; Schwartz, JC; Sokoloff, P
      Edg-2 in myelin-forming cells: Isoforms, genomic mapping, and exclusion inCharcot-Marie-Tooth disease

      GLIA
    61. Hazan, J; Davoine, CS; Mavel, D; Fonknechten, N; Paternotte, C; Fizames, C; Cruaud, C; Samson, D; Muselet, D; Vega-Czarny, N; Brice, A; Gyapay, G; Heilig, R; Fontaine, B; Weissenbach, J
      A fine integrated map of the SPG4 locus excludes an expanded CAG repeat inchromosome 2p-linked autosomal dominant spastic paraplegia

      GENOMICS
    62. Sabbagh, N; Brice, A; Marez, D; Durr, A; Legrand, M; Lo Guidice, JM; Destee, A; Agid, Y; Broly, F
      CYP2D6 polymorphism and Parkinson's disease susceptibility

      MOVEMENT DISORDERS
    63. Cossee, M; Durr, A; Schmitt, M; Dahl, N; Trouillas, P; Allinson, P; Kostrzewa, M; Nivelon-Chevallier, A; Gustavson, KH; Kohlschutter, A; Muller, U; Mandel, JL; Brice, A; Koenig, M; Cavalcanti, F; Tammaro, A; De Michele, G; Filla, A; Cocozza, S; Labuda, M; Montermini, L; Poirier, J; Pandolfo, M
      Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes

      ANNALS OF NEUROLOGY
    64. Ring, HZ; Chang, H; Guilbot, A; Brice, A; LeGuern, E; Francke, U
      The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie Tooth disease linked to 5q

      HUMAN GENETICS
    65. Burk, K; Fetter, M; Abele, M; Laccone, F; Brice, A; Dichgans, J; Klockgether, T
      Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3

      JOURNAL OF NEUROLOGY
    66. Harhangi, BS; Farrer, MJ; Lincoln, S; Bonifati, V; Meco, G; De Michele, G; Brice, A; Durr, A; Martinez, M; Gasser, T; Bereznai, B; Vaughan, JR; Wood, NW; Hardy, J; Oostra, BA; Breteler, MMB
      The lle93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

      NEUROSCIENCE LETTERS
    67. Brassat, D; Durr, A; Agid, Y; Brice, A
      Genetic aspect of Parkinson's disease.

      REVUE DE MEDECINE INTERNE
    68. Kubis, N; Durr, A; Gugenheim, M; Chneiweiss, H; Mazzetti, P; Brice, A; Bouche, P
      Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype-genotype correlation

      MUSCLE & NERVE
    69. Stevanin, G; Herman, A; Brice, A; Durr, A
      Clinical and MRI findings in spinocerebellar ataxia type 5

      NEUROLOGY
    70. Mouton, P; Tardieu, S; Gouider, R; Birouk, N; Maisonabe, T; Dubourg, O; Brice, A; LeGuern, E; Bouche, P
      Spectrum of clinical and electrophysiologic features in HNPP patients withthe 17p11.2 deletion

      NEUROLOGY
    71. Ancolio, K; Dumanchin, C; Barelli, H; Warter, JM; Brice, A; Campion, D; Frebourg, T; Checler, F
      Unusual phenotypic alteration of beta amyloid precursor protein (beta APP)maturation by a new Val-715 -> Met beta APP-770 mutation responsible for probable early-onset Alzheimer's disease

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    72. Didierjean, O; Cancel, G; Stevanin, G; Durr, A; Burk, K; Benomar, A; Lezin, A; Belal, S; Abada-Bendid, M; Klockgether, T; Brice, A
      Linkage disequilibrium at the SCA2 locus

      JOURNAL OF MEDICAL GENETICS
    73. Durr, A; Hahn-Barma, V; Brice, A; Pecheux, C; Dode, C; Feingold, J
      Homozygosity in Huntington's disease

      JOURNAL OF MEDICAL GENETICS
    74. Brice, A; Roseberry-McKibbin, C
      Turning frustration into success for English language learners

      EDUCATIONAL LEADERSHIP
    75. Burk, K; Globas, C; Bosch, S; Graber, S; Abele, M; Brice, A; Dichgans, J; Daum, I; Klockgether, T
      Cognitive deficits in spinocerebellar ataxia 2

      BRAIN
    76. Lebre, AS; Durr, A; Jedynak, P; Ponsot, G; Vidailhet, M; Agid, Y; Brice, A
      DYT1 mutation in French families with idiopathic torsion dystonia

      BRAIN
    77. Baulac, S; Gourfinkel-An, I; Picard, F; Rosenberg-Bourgin, M; Prud'homme, JF; Baulac, M; Brice, A; LeGuern, E
      A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33

      AMERICAN JOURNAL OF HUMAN GENETICS
    78. Campion, D; Dumanchin, C; Hannequin, D; Dubois, B; Belliard, S; Puel, M; Thomas-Anterion, C; Michon, A; Martin, C; Charbonnier, F; Raux, G; Camuzat, A; Penet, C; Mesnage, V; Martinez, M; Clerget-Darpoux, F; Brice, A; Frebourg, T
      Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum

      AMERICAN JOURNAL OF HUMAN GENETICS
    79. Bouhouche, A; Benomar, A; Birouk, N; Mularoni, A; Meggouh, F; Tassin, J; Grid, D; Vandenberghe, A; Yahyaoui, M; Chkili, T; Brice, A; LeGuern, E
      A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2q21.3

      AMERICAN JOURNAL OF HUMAN GENETICS
    80. Giunti, P; Stevanin, G; Worth, PF; David, G; Brice, A; Wood, NW
      Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and De Novo mutation

      AMERICAN JOURNAL OF HUMAN GENETICS
    81. Duyckaerts, C; Durr, A; Cancel, G; Brice, A
      Nuclear inclusions in spinocerebellar ataxia type 1

      ACTA NEUROPATHOLOGICA
    82. Gargiulo, M; Prouvost, B; Hahn-Barma, V; Lagroua, I; Brice, A; Feingold, J; Durr, A
      Scope and temporality in predictive test. Predictive test for the diagnosis of potential Huntington's disease: the experience of a French hospital (La Pitie-Salpetriere, Paris).

      PUBLIC HEALTH AND UNIVERSAL ETHICS
    83. CANCEL G; GOURFINKELAN I; STEVANIN G; DIDIERJEAN O; ABBAS N; HIRSCH E; AGID Y; BRICE A
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      Human mutation
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      DYT1 MUTATION IN FRENCH FAMILIES WITH IDIOPATHIC TORSION DYSTONIA

      European journal of human genetics
    86. LOPES J; RAVISE N; VANDENEBRGHE A; PALAU F; IONASESCU V; MAYER M; LEVY N; WOOD N; TACHI N; BOUCHE P; LATOUR P; RUBERG M; BRICE A; LEGUERN E
      SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP

      European journal of human genetics
    87. Trottier, Y; Cancel, G; An-Gourfinkel, I; Lutz, Y; Weber, C; Brice, A; Hirsch, E; Mandel, JL
      Heterogeneous intracellular localization and expression of ataxin-3

      NEUROBIOLOGY OF DISEASE
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      SPINOCEREBELLAR ATAXIA TYPE-7 (SCA7) - A NEURODEGENERATIVE DISORDER WITH NEURONAL INTRANUCLEAR INCLUSIONS

      Human molecular genetics
    89. VAUGHAN JR; FARRER MJ; WSZOLEK ZK; GASSER T; DURR A; AGID Y; BONIFATI V; DEMICHELE G; VOLPE G; LINCOLN S; BRETELER M; MECO G; BRICE A; MARSDEN CD; HARDY J; WOOD NW
      SEQUENCING OF THE ALPHA-SYNUCLEIN GENE IN A LARGE SERIES OF CASES OF FAMILIAL PARKINSONS-DISEASE FAILS TO REVEAL ANY FURTHER MUTATIONS

      Human molecular genetics
    90. DAVID G; DURR A; STEVANIN G; CANCEL G; ABBAS N; BENOMAR A; BELAL S; LEBRE AS; ABADABENDIB M; GRID D; HOLMBERG M; YAHYAOUI M; HENTATI F; CHKILI T; AGID Y; BRICE A
      MOLECULAR AND CLINICAL CORRELATIONS IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PROGRESSIVE MACULAR DYSTROPHY (SCA7)

      Human molecular genetics
    91. JOHANSSON J; FORSGREN L; SANDGREN O; BRICE A; HOLMGREN G; HOLMBERG M
      EXPANDED CAG REPEATS IN SWEDISH SPINOCEREBELLAR ATAXIA TYPE-7 (SCA7) PATIENTS - EFFECT OF CAG REPEAT LENGTH ON THE CLINICAL MANIFESTATION

      Human molecular genetics
    92. STEVANIN G; GIUNTI P; DAVID G; BELAL S; DURR A; RUBERG M; WOOD N; BRICE A
      DE-NOVO EXPANSION OF INTERMEDIATE ALLELES IN SPINOCEREBELLAR ATAXIA-7

      Human molecular genetics (Print)
    93. DUMANCHIN C; CAMUZAT A; CAMPION D; VERPILLAT P; HANNEQUIN D; DUBOIS B; SAUGIERVEBER P; MARTIN C; PENET C; CHARBONNIER F; AGID Y; FREBOURG T; BRICE A
      SEGREGATION OF A MISSENSE MUTATION IN THE MICROTUBULE-ASSOCIATED PROTEIN-TAU GENE WITH FAMILIAL FRONTOTEMPORAL DEMENTIA AND PARKINSONISM

      Human molecular genetics (Print)
    94. LOPES J; RAVISE N; VANDENBERGHE A; PALAU F; IONASESCU V; MAYER M; LEVY N; WOOD N; TACHI N; BOUCHE P; LATOUR P; RUBERG M; BRICE A; LEGUERN E
      FINE MAPPING OF DE-NOVO CMT1A AND HNPP REARRANGEMENTS WITHIN CMT1A-REPS EVIDENCES 2 DISTINCT SEX-DEPENDENT MECHANISMS AND CANDIDATE SEQUENCES INVOLVED IN RECOMBINATION

      Human molecular genetics
    95. GOURFINKELAN I; CANCEL G; DUYCKAERTS C; FAUCHEUX B; HAUW JJ; TROTTIER Y; BRICE A; AGID Y; HIRSCH EC
      NEURONAL DISTRIBUTION OF INTRANUCLEAR INCLUSIONS IN HUNTINGTONS-DISEASE WITH ADULT-ONSET

      NeuroReport
    96. IKEUCHI T; SANPEI K; TAKANO H; SASAKI H; TASHIRO K; CANCEL G; BRICE A; BIRD TD; SCHELLENBERG GD; PERICAKVANCE MA; WELSHBOHMER KA; CLARK LN; WILHELMSEN K; TSUJI S
      A NOVEL LONG AND UNSTABLE CAG CTG TRINUCLEOTIDE REPEAT ON CHROMOSOME 17Q/

      Genomics
    97. STEVANIN G; DAVID G; ABBAS N; AGID Y; BRICE A; YVERT G
      AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH MACULAR DYSTROPHY (SCA7)

      MS. Medecine sciences
    98. Brice, A
      Parkin is responsible for a parkinsonian syndrome, with autosomal recessive transmission.

      M S-MEDECINE SCIENCES
    99. Brice, A
      Parkinson's disease: monogenic forms and genetic susceptibility factors.

      PATHOLOGIE BIOLOGIE
    100. VAUGHAN J; DURR A; TASSIN J; BEREZNAI B; GASSER T; BONIFATI V; DEMICHELE G; FABRIZIO E; VOLPE G; BANDMANN O; JOHNSON WG; GOLBE LI; BRETELER M; MECO G; AGID Y; BRICE A; MARSDEN CD; WOOD NW
      THE ALPHA-SYNUCLEIN ALA53THR MUTATION IS NOT A COMMON-CAUSE OF FAMILIAL PARKINSONS-DISEASE - A STUDY OF 230 EUROPEAN CASES

      Annals of neurology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/05/20 alle ore 14:42:42