Results
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Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). [electronic resource] by
- Neuillé, Marion
- El Shamieh, Said
- Orhan, Elise
- Michiels, Christelle
- Antonio, Aline
- Lancelot, Marie-Elise
- Condroyer, Christel
- Bujakowska, Kinga
- Poch, Olivier
- Sahel, José-Alain
- Audo, Isabelle
- Zeitz, Christina
Producer: 20150113
In:
PloS one vol. 9
Availability: No items available.
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3.
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Follow-up study of the GIGYF2 gene in French families with Parkinson's disease. [electronic resource] by
- Lesage, Suzanne
- Condroyer, Christel
- Lohman, Ebba
- Troiano, André
- Tison, François
- Viallet, François
- Damier, Philippe
- Tranchant, Christine
- Vidhaillet, Marie
- Ouvrard-Hernandez, Anne-Marie
- Dürr, Alexandra
- Brice, Alexis
Producer: 20100713
In:
Neurobiology of aging vol. 31
Availability: No items available.
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4.
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C9orf72 repeat expansions are a rare genetic cause of parkinsonism. [electronic resource] by
- Lesage, Suzanne
- Le Ber, Isabelle
- Condroyer, Christel
- Broussolle, Emmanuel
- Gabelle, Audrey
- Thobois, Stéphane
- Pasquier, Florence
- Mondon, Karl
- Dion, Patrick A
- Rochefort, Daniel
- Rouleau, Guy A
- Dürr, Alexandra
- Brice, Alexis
Producer: 20130410
In:
Brain : a journal of neurology vol. 136
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5.
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Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. [electronic resource] by
- El Shamieh, Said
- Boulanger-Scemama, Elise
- Lancelot, Marie-Elise
- Antonio, Aline
- Démontant, Vanessa
- Condroyer, Christel
- Letexier, Mélanie
- Saraiva, Jean-Paul
- Mohand-Saïd, Saddek
- Sahel, José-Alain
- Audo, Isabelle
- Zeitz, Christina
Producer: 20151110
In:
BioMed research international vol. 2015
Availability: No items available.
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Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. [electronic resource] by
- Lesage, Suzanne
- Anheim, Mathieu
- Condroyer, Christel
- Pollak, Pierre
- Durif, Franck
- Dupuits, Céline
- Viallet, François
- Lohmann, Ebba
- Corvol, Jean-Christophe
- Honoré, Aurélie
- Rivaud, Sophie
- Vidailhet, Marie
- Dürr, Alexandra
- Brice, Alexis
Producer: 20110524
In:
Human molecular genetics vol. 20
Availability: No items available.
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Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. [electronic resource] by
- El Shamieh, Said
- Méjécase, Cécile
- Bertelli, Matteo
- Terray, Angélique
- Michiels, Christelle
- Condroyer, Christel
- Fouquet, Stéphane
- Sadoun, Maxime
- Clérin, Emmanuelle
- Liu, Binqian
- Léveillard, Thierry
- Goureau, Olivier
- Sahel, José-Alain
- Audo, Isabelle
- Zeitz, Christina
Publication details: Genes Oct 2017
In:
Genes vol. 8
Availability: No items available.
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8.
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. [electronic resource] by
- Boulanger-Scemama, Elise
- El Shamieh, Said
- Démontant, Vanessa
- Condroyer, Christel
- Antonio, Aline
- Michiels, Christelle
- Boyard, Fiona
- Saraiva, Jean-Paul
- Letexier, Mélanie
- Souied, Eric
- Mohand-Saïd, Saddek
- Sahel, José-Alain
- Zeitz, Christina
- Audo, Isabelle
Producer: 20160425
In:
Orphanet journal of rare diseases vol. 10
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9.
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Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. [electronic resource] by
- Vincent, Ajoy
- Audo, Isabelle
- Tavares, Erika
- Maynes, Jason T
- Tumber, Anupreet
- Wright, Thomas
- Li, Shuning
- Michiels, Christelle
- Condroyer, Christel
- MacDonald, Heather
- Verdet, Robert
- Sahel, José-Alain
- Hamel, Christian P
- Zeitz, Christina
- Héon, Elise
Producer: 20170515
In:
American journal of human genetics vol. 98
Availability: No items available.
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10.
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EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? [electronic resource] by
- Lesage, Suzanne
- Condroyer, Christel
- Klebe, Stephan
- Lohmann, Ebba
- Durif, Franck
- Damier, Philippe
- Tison, François
- Anheim, Mathieu
- Honoré, Aurélie
- Viallet, François
- Bonnet, Anne-Marie
- Ouvrard-Hernandez, Anne-Marie
- Vidailhet, Marie
- Durr, Alexandra
- Brice, Alexis
Producer: 20121129
In:
Neurobiology of aging vol. 33
Availability: No items available.
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11.
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Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. [electronic resource] by
- Lesage, Suzanne
- Bras, Jose
- Cormier-Dequaire, Florence
- Condroyer, Christel
- Nicolas, Aude
- Darwent, Lee
- Guerreiro, Rita
- Majounie, Elisa
- Federoff, Monica
- Heutink, Peter
- Wood, Nicholas W
- Gasser, Thomas
- Hardy, John
- Tison, François
- Singleton, Andrew
- Brice, Alexis
Producer: 20160412
In:
Neurology. Genetics vol. 1
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12.
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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. [electronic resource] by
- Méjécase, Cécile
- Laurent-Coriat, Caroline
- Mayer, Claudine
- Poch, Olivier
- Mohand-Saïd, Saddek
- Prévot, Camille
- Antonio, Aline
- Boyard, Fiona
- Condroyer, Christel
- Michiels, Christelle
- Blanchard, Steven
- Letexier, Mélanie
- Saraiva, Jean-Paul
- Sahel, José-Alain
- Audo, Isabelle
- Zeitz, Christina
Producer: 20170705
In:
PloS one vol. 11
Availability: No items available.
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13.
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Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. [electronic resource] by
- El Shamieh, Said
- Neuillé, Marion
- Terray, Angélique
- Orhan, Elise
- Condroyer, Christel
- Démontant, Vanessa
- Michiels, Christelle
- Antonio, Aline
- Boyard, Fiona
- Lancelot, Marie-Elise
- Letexier, Mélanie
- Saraiva, Jean-Paul
- Léveillard, Thierry
- Mohand-Saïd, Saddek
- Goureau, Olivier
- Sahel, José-Alain
- Zeitz, Christina
- Audo, Isabelle
Producer: 20140530
In:
American journal of human genetics vol. 94
Availability: No items available.
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14.
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Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. [electronic resource] by
- Lesage, Suzanne
- Patin, Etienne
- Condroyer, Christel
- Leutenegger, Anne-Louise
- Lohmann, Ebba
- Giladi, Nir
- Bar-Shira, Anat
- Belarbi, Soraya
- Hecham, Nassima
- Pollak, Pierre
- Ouvrard-Hernandez, Anne-Marie
- Bardien, Soraya
- Carr, Jonathan
- Benhassine, Traki
- Tomiyama, Hiroyuki
- Pirkevi, Caroline
- Hamadouche, Tarik
- Cazeneuve, Cécile
- Basak, A Nazli
- Hattori, Nobutaka
- Dürr, Alexandra
- Tazir, Meriem
- Orr-Urtreger, Avi
- Quintana-Murci, Lluis
- Brice, Alexis
Producer: 20100721
In:
Human molecular genetics vol. 19
Availability: No items available.
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