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Publications of P. Ibanez
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Articles in journal or book chapters
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P. Ibanez,
S. Lesage,
S. Janin,
E. Lohmann,
F. Durif,
A. Destee,
A. M. Bonnet,
C. Brefel-Courbon,
S. Heath,
D. Zelenika,
Y. Agid,
A. Durr,
and A. Brice.
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
Arch Neurol,
66(1):102-8,
2009.
Note: French Parkinson's Disease Genetics Study GroupJournal ArticleResearch Support, Non-U.S. Gov'tUnited States.
[WWW]
Keyword(s): Adult,
Aged,
Aged,
80 and over,
Brain Chemistry/*genetics,
Chromosome Breakage,
DNA Mutational Analysis,
DNA Repeat Expansion/genetics,
Female,
Gene Dosage/genetics,
Genes,
Dominant/*genetics,
Genetic Predisposition to Disease/*genetics,
Genetic Screening,
Genotype,
Haplotypes/genetics,
Humans,
Male,
Microsatellite Repeats/genetics,
Middle Aged,
Oligonucleotide Array Sequence Analysis,
Parkinsonian Disorders/*genetics/*metabolism/physiopathology,
Polymorphism,
Single Nucleotide/genetics,
alpha-Synuclein/*genetics.
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P. Ibanez,
S. Lesage,
E. Lohmann,
S. Thobois,
G. De Michele,
M. Borg,
Y. Agid,
A. Durr,
and A. Brice.
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
Brain,
129(Pt 3):686-94,
2006.
Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsCase ReportsJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tEnglanda journal of neurology.
[WWW]
Keyword(s): Adult,
Age of Onset,
Aged,
Amino Acid Sequence,
DNA Mutational Analysis,
Female,
Humans,
Male,
Middle Aged,
Molecular Sequence Data,
*Mutation,
Parkinsonian Disorders/*genetics,
Pedigree,
Protein Kinases/*genetics,
Sequence Alignment,
Ubiquitin-Protein Ligases/genetics.
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A. L. Leutenegger,
M. A. Salih,
P. Ibanez,
M. M. Mukhtar,
S. Lesage,
A. Arabi,
E. Lohmann,
A. Durr,
A. E. Ahmed,
and A. Brice.
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
Arch Neurol,
63(9):1257-61,
2006.
Note: Ns 41723-01a1/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralUnited States.
[WWW]
Keyword(s): Adenosine Triphosphate/*metabolism,
Adolescent,
Adult,
Age of Onset,
Alanine/genetics,
Amino Acid Sequence,
Aspartic Acid/genetics,
DNA Mutational Analysis,
*Family Health,
Female,
Genetic Predisposition to Disease,
Humans,
Male,
Middle Aged,
*Mutation,
Parkinsonian Disorders/*genetics,
Protein Kinases/*genetics,
Sudan.
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O. Corti,
C. Hampe,
F. Darios,
P. Ibanez,
M. Ruberg,
and A. Brice.
Parkinson's disease: from causes to mechanisms.
C R Biol,
328(2):131-42,
2005.
Note: Journal ArticleReviewFrance.
[WWW]
Keyword(s): Corpus Striatum/physiopathology,
Dopamine/physiology,
Humans,
Mitochondria/pathology/physiology,
Nerve Tissue Proteins/genetics,
Parkinson Disease/etiology/genetics/*physiopathology,
Substantia Nigra/physiopathology,
Synucleins,
Ubiquitin-Protein Ligases/genetics.
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S. Lesage,
P. Ibanez,
E. Lohmann,
P. Pollak,
F. Tison,
M. Tazir,
A. L. Leutenegger,
J. Guimaraes,
A. M. Bonnet,
Y. Agid,
A. Durr,
and A. Brice.
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
Ann Neurol,
58(5):784-7,
2005.
Note: French Parkinson's Disease Genetics Study GroupComparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States.
[WWW]
Keyword(s): Adult,
Africa,
Northern/epidemiology/ethnology,
Aged,
Aged,
80 and over,
DNA Mutational Analysis/methods,
*Family Health,
Female,
France/epidemiology/ethnology,
Gene Frequency,
Genetic Predisposition to Disease,
Genotype,
Glycine/*genetics,
Humans,
Male,
Mental Status Schedule/statistics & numerical data,
Middle Aged,
*Mutation,
Parkinson Disease/*genetics,
Protein-Serine-Threonine Kinases/*genetics,
Serine/*genetics.
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S. Lesage,
A. L. Leutenegger,
P. Ibanez,
S. Janin,
E. Lohmann,
A. Durr,
and A. Brice.
LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century.
Am J Hum Genet,
77(2):330-2,
2005.
Note: French Parkinson's Disease Genetics Study GroupLetterResearch Support, Non-U.S. Gov'tUnited States.
[WWW]
Keyword(s): Africa,
Northern,
African Continental Ancestry Group,
European Continental Ancestry Group,
Family Health,
*Founder Effect,
Genetic Markers,
Genotype,
*Haplotypes,
Humans,
Microsatellite Repeats,
Middle Aged,
*Mutation,
Parkinson Disease/*genetics,
Protein-Serine-Threonine Kinases/*genetics.
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P. Ibanez,
A. M. Bonnet,
B. Debarges,
E. Lohmann,
F. Tison,
P. Pollak,
Y. Agid,
A. Durr,
and A. Brice.
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.
Lancet,
364(9440):1169-71,
2004.
Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Adult,
Age of Onset,
Aged,
Aged,
80 and over,
Disease Progression,
Female,
*Gene Duplication,
Humans,
Lewy Body Disease/genetics,
Male,
Microsatellite Repeats,
Middle Aged,
Mutation,
Missense,
Nerve Tissue Proteins/*genetics,
Parkinson Disease/*genetics,
Phenotype,
Polymerase Chain Reaction,
Synucleins,
alpha-Synuclein.
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P. Ibanez,
E. Lohmann,
P. Pollak,
F. Durif,
C. Tranchant,
Y. Agid,
A. Durr,
and A. Brice.
Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease.
Neurology,
62(11):2133-4,
2004.
Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States.
[WWW]
Keyword(s): Adult,
Age of Onset,
Aged,
Aged,
80 and over,
DNA Mutational Analysis,
DNA-Binding Proteins/*genetics,
Europe/ethnology,
Exons/genetics,
Female,
France/epidemiology,
Genes,
Dominant,
Humans,
Male,
Middle Aged,
Parkinson Disease/epidemiology/*genetics,
Transcription Factors/*genetics.
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V. Bonifati,
P. Rizzu,
M. J. van Baren,
O. Schaap,
G. J. Breedveld,
E. Krieger,
M. C. Dekker,
F. Squitieri,
P. Ibanez,
M. Joosse,
J. W. van Dongen,
N. Vanacore,
J. C. van Swieten,
A. Brice,
G. Meco,
C. M. van Duijn,
B. A. Oostra,
and P. Heutink.
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Science,
299(5604):256-9,
2003.
Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States.
[WWW]
Keyword(s): Alleles,
Amino Acid Sequence,
Amino Acid Substitution,
Animals,
Base Sequence,
Brain/metabolism,
COS Cells,
Cell Nucleus/metabolism,
Chromosomes,
Human,
Pair 1,
Cloning,
Molecular,
Cytoplasm/metabolism,
DNA,
Complementary,
Exons,
Genes,
Recessive,
Humans,
Intracellular Signaling Peptides and Proteins,
Molecular Sequence Data,
*Mutation,
Oncogene Proteins/chemistry/*genetics/metabolism,
Oxidative Stress,
PC12 Cells,
Parkinsonian Disorders/*genetics/metabolism,
Pedigree,
Physical Chromosome Mapping,
Point Mutation,
Protein Structure,
Secondary,
Rats,
Reverse Transcriptase Polymerase Chain Reaction,
Sequence Deletion,
Transfection.
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P. Ibanez,
G. De Michele,
V. Bonifati,
E. Lohmann,
S. Thobois,
P. Pollak,
Y. Agid,
P. Heutink,
A. Durr,
and A. Brice.
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.
Neurology,
61(10):1429-31,
2003.
Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States.
[WWW]
Keyword(s): Adolescent,
Adult,
Age of Onset,
Aged,
Child,
DNA Mutational Analysis,
Female,
Gene Frequency,
Genetic Predisposition to Disease,
Humans,
Intracellular Signaling Peptides and Proteins,
Male,
Middle Aged,
*Mutation,
Oncogene Proteins/*genetics,
Parkinsonian Disorders/diagnosis/*genetics.
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J. M. Itier,
P. Ibanez,
M. A. Mena,
N. Abbas,
C. Cohen-Salmon,
G. A. Bohme,
M. Laville,
J. Pratt,
O. Corti,
L. Pradier,
G. Ret,
C. Joubert,
M. Periquet,
F. Araujo,
J. Negroni,
M. J. Casarejos,
S. Canals,
R. Solano,
A. Serrano,
E. Gallego,
M. Sanchez,
P. Denefle,
J. Benavides,
G. Tremp,
T. A. Rooney,
A. Brice,
and J. Garcia de Yebenes.
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse.
Hum Mol Genet,
12(18):2277-91,
2003.
Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Alleles,
Animals,
Base Sequence,
Behavior,
Animal/*drug effects,
Body Temperature/genetics,
Body Weight/genetics,
Catecholamines/antagonists & inhibitors,
Cells,
Cultured,
Dopamine/*metabolism/pharmacokinetics,
Enzyme Inhibitors/pharmacology,
Exons,
Female,
*Gene Silencing,
Homozygote,
Introns,
Male,
Mice,
Mice,
Transgenic,
Monoamine Oxidase/metabolism,
Neurons/drug effects/metabolism,
Neurotransmitter Uptake Inhibitors/*metabolism,
Sequence Deletion,
Ubiquitin-Protein Ligases/*genetics/metabolism,
alpha-Methyltyrosine/pharmacology.
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Last modified: Thu May 6 18:23:03 2010
Author: schwartz.
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