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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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S. Lesage,
E. Lohmann,
F. Tison,
F. Durif,
A. Durr,
and A. Brice.
Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive.
Hum Genet,
123(1):114,
2008.
Note: Journal ArticleGermany.
[WWW]
Keyword(s): Amino Acid Substitution,
Codon,
*Genes,
Recessive,
Humans,
Molecular Sequence Data,
Parkinsonian Disorders/*genetics,
Ubiquitin-Protein Ligases/chemistry/*genetics.
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S. Lesage,
E. Lohmann,
F. Tison,
F. Durif,
A. Durr,
and A. Brice.
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.
J Med Genet,
45(1):43-6,
2008.
Note: French Parkinson's Disease Genetics Study GroupNS41723-01A1/NS/NINDS NIH HHS/United StatesLetterResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Adolescent,
Adult,
Age of Onset,
Aged,
Alleles,
Case-Control Studies,
DNA Mutational Analysis,
European Continental Ancestry Group,
Exons/genetics,
Female,
France,
Gene Frequency,
Genetic Predisposition to Disease,
*Genetic Variation,
*Heterozygote,
Humans,
Male,
Middle Aged,
Parkinson Disease/*genetics/physiopathology,
Point Mutation,
Ubiquitin-Protein Ligases/*genetics.
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F. Galland,
L. Malet,
Y. Worbe,
A. Hartman,
L. Mallet,
P. P. Derost,
D. Morand,
I. de Chazeron,
P. M. Llorca,
Y. Agid,
F. Durif,
and I. Jalenques.
Quality of life of patients with Gilles de la Tourette's syndrome: Results of the pilot study.
Mov Disord,
22:S281-S281,
2007.
Note: Suppl. 16.
[WWW]
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S. Lesage,
S. Janin,
E. Lohmann,
A. L. Leutenegger,
L. Leclere,
F. Viallet,
P. Pollak,
F. Durif,
S. Thobois,
V. Layet,
M. Vidailhet,
Y. Agid,
A. Durr,
A. Brice,
A. M. Bonnet,
M. Borg,
E. Broussolle,
P. Damier,
A. Destee,
M. Martinez,
C. Penet,
O. Rasco,
F. Tison,
C. Tranchan,
and M. Verin.
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Arch Neurol,
64(3):425-30,
2007.
Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States.
[WWW]
Keyword(s): Adolescent,
Adult,
Aged,
Aged,
80 and over,
DNA Mutational Analysis/methods,
Europe,
Exons/*genetics,
Female,
Histidine/genetics,
Humans,
Male,
Middle Aged,
*Mutation,
Parkinson Disease/*genetics,
Protein-Serine-Threonine Kinases/*genetics,
Serine/genetics,
Threonine/genetics,
Tyrosine/genetics.
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S. Tezenas du Montcel,
F. Clot,
M. Vidailhet,
E. Roze,
P. Damier,
C. P. Jedynak,
A. Camuzat,
A. Lagueny,
L. Vercueil,
D. Doummar,
L. Guyant-Marechal,
J. L. Houeto,
G. Ponsot,
S. Thobois,
M. A. Cournelle,
A. Durr,
F. Durif,
B. Echenne,
D. Hannequin,
C. Tranchant,
and A. Brice.
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
J Med Genet,
43(5):394-400,
2006.
Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Adolescent,
Adult,
Aged,
Child,
Child,
Preschool,
Choreatic Disorders/diagnosis/genetics,
Chromosomes,
Human,
Pair 7,
Cohort Studies,
DNA Mutational Analysis,
Dystonic Disorders/*diagnosis/genetics,
Female,
France,
Genetic Screening,
Humans,
Infant,
Male,
Middle Aged,
Molecular Chaperones/genetics,
*Mutation,
Myoclonus/*diagnosis/genetics,
Phenotype,
Sarcoglycans/*genetics,
Syndrome.
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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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Last modified: Thu May 6 18:22:51 2010
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