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Publications of C. Cazeneuve
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Articles in journal or book chapters
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S. Lesage,
E. Patin,
C. Condroyer,
A. L. Leutenegger,
E. Lohmann,
N. Giladi,
A. Bar-Shira,
S. Belarbi,
N. Hecham,
P. Pollak,
A. M. Ouvrard-Hernandez,
S. Bardien,
J. Carr,
T. Benhassine,
H. Tomiyama,
C. Pirkevi,
T. Hamadouche,
C. Cazeneuve,
A. N. Basak,
N. Hattori,
A. Durr,
M. Tazir,
A. Orr-Urtreger,
L. Quintana-Murci,
and A. Brice.
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
Hum Mol Genet,
2010.
Note: For the French Parkinson's Disease Genetics Study GroupJournal article.
[WWW]
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C. Cazeneuve,
C. San,
S. A. Ibrahim,
M. M. Mukhtar,
M. M. Kheir,
E. Leguern,
A. Brice,
and M. A. Salih.
A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.
Neurogenetics,
2009.
Note: Journal article.
[WWW]
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F. Clot,
D. Grabli,
C. Cazeneuve,
E. Roze,
P. Castelnau,
B. Chabrol,
P. Landrieu,
K. Nguyen,
G. Ponsot,
M. Abada,
D. Doummar,
P. Damier,
R. Gil,
S. Thobois,
A. J. Ward,
M. Hutchinson,
A. Toutain,
F. Picard,
A. Camuzat,
E. Fedirko,
C. San,
D. Bouteiller,
E. LeGuern,
A. Durr,
M. Vidailhet,
and A. Brice.
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Brain,
132(Pt 7):1753-63,
2009.
Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology.
[WWW]
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C. Depienne,
D. Bouteiller,
B. Keren,
E. Cheuret,
K. Poirier,
O. Trouillard,
B. Benyahia,
C. Quelin,
W. Carpentier,
S. Julia,
A. Afenjar,
A. Gautier,
F. Rivier,
S. Meyer,
P. Berquin,
M. Helias,
I. Py,
S. Rivera,
N. Bahi-Buisson,
I. Gourfinkel-An,
C. Cazeneuve,
M. Ruberg,
A. Brice,
R. Nabbout,
and E. Leguern.
Erratum.
PLoS Genet,
5(4),
2009.
Note: Journal ArticleUnited States.
[WWW]
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C. Depienne,
D. Bouteiller,
B. Keren,
E. Cheuret,
K. Poirier,
O. Trouillard,
B. Benyahia,
C. Quelin,
W. Carpentier,
S. Julia,
A. Afenjar,
A. Gautier,
F. Rivier,
S. Meyer,
P. Berquin,
M. Helias,
I. Py,
S. Rivera,
N. Bahi-Buisson,
I. Gourfinkel-An,
C. Cazeneuve,
M. Ruberg,
A. Brice,
R. Nabbout,
and E. Leguern.
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
PLoS Genet,
5(2):e1000381,
2009.
Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States.
[WWW]
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C. Depienne,
O. Trouillard,
C. Saint-Martin,
I. Gourfinkel-An,
D. Bouteiller,
W. Carpentier,
B. Keren,
B. Abert,
A. Gautier,
S. Baulac,
A. Arzimanoglou,
C. Cazeneuve,
R. Nabbout,
and E. LeGuern.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
J Med Genet,
46(3):183-91,
2009.
Note: LetterResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Epilepsies,
Myoclonic/*genetics,
Female,
Gene Deletion,
Gene Rearrangement,
Humans,
Infant,
Infant,
Newborn,
Male,
*Mutation,
Nerve Tissue Proteins/*genetics,
Nucleic Acid Amplification Techniques,
Sequence Analysis,
DNA,
Sodium Channels/*genetics.
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C. Depienne,
O. Trouillard,
C. Saint-Martin,
I. Gourfinkel-An,
D. Bouteiller,
W. Carpentier,
B. Keren,
B. Abert,
A. Gautier,
S. Baulac,
A. Arzimanoglou,
C. Cazeneuve,
R. Nabbout,
and E. LeGuern.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
J Med Genet,
46(3):183-91,
2009.
Note: LetterResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Epilepsies,
Myoclonic/*genetics,
Female,
Gene Deletion,
Gene Rearrangement,
Humans,
Infant,
Infant,
Newborn,
Male,
*Mutation,
Nerve Tissue Proteins/*genetics,
Nucleic Acid Amplification Techniques,
Sequence Analysis,
DNA,
Sodium Channels/*genetics.
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C. M. Dhaenens,
S. Burnouf,
C. Simonin,
E. Van Brussel,
A. Duhamel,
L. Defebvre,
C. Duru,
I. Vuillaume,
C. Cazeneuve,
P. Charles,
P. Maison,
S. Debruxelles,
C. Verny,
H. Gervais,
J. P. Azulay,
C. Tranchant,
A. C. Bachoud-Levi,
A. Durr,
L. Buee,
P. Krystkowiak,
B. Sablonniere,
and D. Blum.
A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
Neurobiol Dis,
35(3):474-6,
2009.
Note: Huntington French Speaking NetworkJournal ArticleResearch Support, Non-U.S. Gov'tUnited States.
[WWW]
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D. Seilhean,
C. Cazeneuve,
V. Thuries,
O. Russaouen,
S. Millecamps,
F. Salachas,
V. Meininger,
E. Leguern,
and C. Duyckaerts.
Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation.
Acta Neuropathol,
118(4):561-573,
2009.
Note: Journal article.
[WWW]
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C. Depienne,
E. Fedirko,
S. Forlani,
C. Cazeneuve,
P. Ribai,
I. Feki,
C. Tallaksen,
K. Nguyen,
B. Stankoff,
M. Ruberg,
G. Stevanin,
A. Durr,
and A. Brice.
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
J Med Genet,
44(4):281-4,
2007.
Note: Comparative StudyLetterResearch Support, Non-U.S. Gov'tEngland.
[WWW]
Keyword(s): Adenosine Triphosphatases/deficiency/*genetics,
Adolescent,
Adult,
Age of Onset,
Aged,
Child,
Child,
Preschool,
DNA Mutational Analysis,
Exons/*genetics,
Female,
France/epidemiology,
Genetic Heterogeneity,
Genetic Screening,
Humans,
Infant,
Male,
Middle Aged,
Point Mutation,
Polymerase Chain Reaction/methods,
Portugal/epidemiology,
Spain/epidemiology,
Spastic Paraplegia,
Hereditary/epidemiology/*genetics.
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Last modified: Thu May 6 18:22:43 2010
Author: schwartz.
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