Results
|
81.
|
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151103
In:
Brain : a journal of neurology vol. 138
Availability: No items available.
|
|
82.
|
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150318
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
|
|
83.
|
Progranulin null mutations in both sporadic and familial frontotemporal dementia. [electronic resource] by
- Le Ber, Isabelle
- van der Zee, Julie
- Hannequin, Didier
- Gijselinck, Ilse
- Campion, Dominique
- Puel, Michèle
- Laquerrière, Annie
- De Pooter, Tim
- Camuzat, Agnès
- Van den Broeck, Marleen
- Dubois, Bruno
- Sellal, François
- Lacomblez, Lucette
- Vercelletto, Martine
- Thomas-Antérion, Catherine
- Michel, Bernard-François
- Golfier, Véronique
- Didic, Mira
- Salachas, François
- Duyckaerts, Charles
- Cruts, Marc
- Verpillat, Patrice
- Van Broeckhoven, Christine
- Brice, Alexis
Producer: 20071002
In:
Human mutation vol. 28
Availability: No items available.
|
|
84.
|
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20160726
In:
Brain : a journal of neurology vol. 139
Availability: No items available.
|
|
85.
|
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. [electronic resource] by
- Millecamps, Stéphanie
- Salachas, François
- Cazeneuve, Cécile
- Gordon, Paul
- Bricka, Bernard
- Camuzat, Agnès
- Guillot-Noël, Léna
- Russaouen, Odile
- Bruneteau, Gaëlle
- Pradat, Pierre-François
- Le Forestier, Nadine
- Vandenberghe, Nadia
- Danel-Brunaud, Véronique
- Guy, Nathalie
- Thauvin-Robinet, Christel
- Lacomblez, Lucette
- Couratier, Philippe
- Hannequin, Didier
- Seilhean, Danielle
- Le Ber, Isabelle
- Corcia, Philippe
- Camu, William
- Brice, Alexis
- Rouleau, Guy
- LeGuern, Eric
- Meininger, Vincent
Producer: 20101124
In:
Journal of medical genetics vol. 47
Availability: No items available.
|
|
86.
|
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David G
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20140923
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
|
|
87.
|
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151222
In:
Brain : a journal of neurology vol. 138
Availability: No items available.
|
|
88.
|
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151001
In:
Brain : a journal of neurology vol. 138
Availability: No items available.
|
|
89.
|
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150318
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
|
|
90.
|
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. [electronic resource] by
- Guerreiro, Rita
- Kara, Eleanna
- Le Ber, Isabelle
- Bras, Jose
- Rohrer, Jonathan D
- Taipa, Ricardo
- Lashley, Tammaryn
- Dupuits, Céline
- Gurunlian, Nicole
- Mochel, Fanny
- Warren, Jason D
- Hannequin, Didier
- Sedel, Frédéric
- Depienne, Christel
- Camuzat, Agnès
- Golfier, Véronique
- Du Boisguéheneuc, Foucaud
- Schottlaender, Lucia
- Fox, Nick C
- Beck, Jonathan
- Mead, Simon
- Rossor, Martin N
- Hardy, John
- Revesz, Tamas
- Brice, Alexis
- Houlden, Henry
Producer: 20130919
In:
JAMA neurology vol. 70
Availability: No items available.
|
|
91.
|
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia. [electronic resource] by
- Le Ber, Isabelle
- Guedj, Eric
- Gabelle, Audrey
- Verpillat, Patrice
- Volteau, Magali
- Thomas-Anterion, Catherine
- Decousus, Marielle
- Hannequin, Didier
- Véra, Pierre
- Lacomblez, Lucette
- Camuzat, Agnès
- Didic, Mira
- Puel, Michèle
- Lotterie, Jean-Albert
- Golfier, Véronique
- Bernard, Anne-Marie
- Vercelletto, Martine
- Magne, Christine
- Sellal, François
- Namer, Izzie
- Michel, Bernard-François
- Pasquier, Jacques
- Salachas, François
- Bochet, Jean
- Brice, Alexis
- Habert, Marie-Odile
- Dubois, Bruno
Producer: 20061211
In:
Brain : a journal of neurology vol. 129
Availability: No items available.
|
|
92.
|
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. [electronic resource] by
- van der Zee, Julie
- Le Ber, Isabelle
- Maurer-Stroh, Sebastian
- Engelborghs, Sebastiaan
- Gijselinck, Ilse
- Camuzat, Agnès
- Brouwers, Nathalie
- Vandenberghe, Rik
- Sleegers, Kristel
- Hannequin, Didier
- Dermaut, Bart
- Schymkowitz, Joost
- Campion, Dominique
- Santens, Patrick
- Martin, Jean-Jacques
- Lacomblez, Lucette
- De Pooter, Tim
- Peeters, Karin
- Mattheijssens, Maria
- Vercelletto, Martine
- Van den Broeck, Marleen
- Cruts, Marc
- De Deyn, Peter P
- Rousseau, Frederic
- Brice, Alexis
- Van Broeckhoven, Christine
Producer: 20070501
In:
Human mutation vol. 28
Availability: No items available.
|
|
93.
|
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience. [electronic resource] by
- Sellami, Leila
- Rucheton, Benoît
- Ben Younes, Imen
- Camuzat, Agnès
- Saracino, Dario
- Rinaldi, Daisy
- Epelbaum, Stephane
- Azuar, Carole
- Levy, Richard
- Auriacombe, Sophie
- Hannequin, Didier
- Pariente, Jérémie
- Barbier, Mathieu
- Boutoleau-Bretonnière, Claire
- Couratier, Philippe
- Pasquier, Florence
- Deramecourt, Vincent
- Sauvée, Mathilde
- Sarazin, Marie
- Lagarde, Julien
- Roué-Jagot, Carole
- Forlani, Sylvie
- Jornea, Ludmila
- David, Isabelle
- LeGuern, Eric
- Dubois, Bruno
- Brice, Alexis
- Clot, Fabienne
- Lamari, Foudil
- Le Ber, Isabelle
Producer: 20201030
In:
Neurobiology of aging vol. 91
Availability: No items available.
|
|
94.
|
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. [electronic resource] by
- Le Ber, Isabelle
- Camuzat, Agnès
- Hannequin, Didier
- Pasquier, Florence
- Guedj, Eric
- Rovelet-Lecrux, Anne
- Hahn-Barma, Valérie
- van der Zee, Julie
- Clot, Fabienne
- Bakchine, Serge
- Puel, Michèle
- Ghanim, Mustapha
- Lacomblez, Lucette
- Mikol, Jacqueline
- Deramecourt, Vincent
- Lejeune, Pascal
- de la Sayette, Vincent
- Belliard, Serge
- Vercelletto, Martine
- Meyrignac, Christian
- Van Broeckhoven, Christine
- Lambert, Jean-Charles
- Verpillat, Patrice
- Campion, Dominique
- Habert, Marie-Odile
- Dubois, Bruno
- Brice, Alexis
Producer: 20080501
In:
Brain : a journal of neurology vol. 131
Availability: No items available.
|
|
95.
|
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. [electronic resource] by
- Wallon, David
- Rousseau, Stéphane
- Rovelet-Lecrux, Anne
- Quillard-Muraine, Muriel
- Guyant-Maréchal, Lucie
- Martinaud, Olivier
- Pariente, Jérémie
- Puel, Michèle
- Rollin-Sillaire, Adeline
- Pasquier, Florence
- Le Ber, Isabelle
- Sarazin, Marie
- Croisile, Bernard
- Boutoleau-Bretonnière, Claire
- Thomas-Antérion, Catherine
- Paquet, Claire
- Moreaud, Olivier
- Gabelle, Audrey
- Sellal, François
- Sauvée, Mathilde
- Laquerrière, Annie
- Duyckaerts, Charles
- Delisle, Marie-Bernadette
- Streichenberger, Nathalie
- Lannes, Béatrice
- Frebourg, Thierry
- Hannequin, Didier
- Campion, Dominique
Producer: 20130515
In:
Journal of Alzheimer's disease : JAD vol. 30
Availability: No items available.
|
|
96.
|
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. [electronic resource] by
- Nicolas, Gaël
- Pottier, Cyril
- Charbonnier, Camille
- Guyant-Maréchal, Lucie
- Le Ber, Isabelle
- Pariente, Jérémie
- Labauge, Pierre
- Ayrignac, Xavier
- Defebvre, Luc
- Maltête, David
- Martinaud, Olivier
- Lefaucheur, Romain
- Guillin, Olivier
- Wallon, David
- Chaumette, Boris
- Rondepierre, Philippe
- Derache, Nathalie
- Fromager, Guillaume
- Schaeffer, Stéphane
- Krystkowiak, Pierre
- Verny, Christophe
- Jurici, Snejana
- Sauvée, Mathilde
- Vérin, Marc
- Lebouvier, Thibaud
- Rouaud, Olivier
- Thauvin-Robinet, Christel
- Rousseau, Stéphane
- Rovelet-Lecrux, Anne
- Frebourg, Thierry
- Campion, Dominique
- Hannequin, Didier
Producer: 20131231
In:
Brain : a journal of neurology vol. 136
Availability: No items available.
|
|
97.
|
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. [electronic resource] by
- Moreira, Maria-Céu
- Klur, Sandra
- Watanabe, Mitsunori
- Németh, Andrea H
- Le Ber, Isabelle
- Moniz, José-Carlos
- Tranchant, Christine
- Aubourg, Patrick
- Tazir, Meriem
- Schöls, Lüdger
- Pandolfo, Massimo
- Schulz, Jörg B
- Pouget, Jean
- Calvas, Patrick
- Shizuka-Ikeda, Masami
- Shoji, Mikio
- Tanaka, Makoto
- Izatt, Louise
- Shaw, Christopher E
- M'Zahem, Abderrahim
- Dunne, Eimear
- Bomont, Pascale
- Benhassine, Traki
- Bouslam, Naïma
- Stevanin, Giovanni
- Brice, Alexis
- Guimarães, João
- Mendonça, Pedro
- Barbot, Clara
- Coutinho, Paula
- Sequeiros, Jorge
- Dürr, Alexandra
- Warter, Jean-Marie
- Koenig, Michel
Producer: 20040503
In:
Nature genetics vol. 36
Availability: No items available.
|
|
98.
|
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. [electronic resource] by
- Coutelier, Marie
- Hammer, Monia B
- Stevanin, Giovanni
- Monin, Marie-Lorraine
- Davoine, Claire-Sophie
- Mochel, Fanny
- Labauge, Pierre
- Ewenczyk, Claire
- Ding, Jinhui
- Gibbs, J Raphael
- Hannequin, Didier
- Melki, Judith
- Toutain, Annick
- Laugel, Vincent
- Forlani, Sylvie
- Charles, Perrine
- Broussolle, Emmanuel
- Thobois, Stéphane
- Afenjar, Alexandra
- Anheim, Mathieu
- Calvas, Patrick
- Castelnovo, Giovanni
- de Broucker, Thomas
- Vidailhet, Marie
- Moulignier, Antoine
- Ghnassia, Robert T
- Tallaksen, Chantal
- Mignot, Cyril
- Goizet, Cyril
- Le Ber, Isabelle
- Ollagnon-Roman, Elisabeth
- Pouget, Jean
- Brice, Alexis
- Singleton, Andrew
- Durr, Alexandra
Producer: 20190924
In:
JAMA neurology vol. 75
Availability: No items available.
|
|
99.
|
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. [electronic resource] by
- Stevanin, Giovanni
- Azzedine, Hamid
- Denora, Paola
- Boukhris, Amir
- Tazir, Meriem
- Lossos, Alexander
- Rosa, Alberto Luis
- Lerer, Israela
- Hamri, Abdelmadjid
- Alegria, Paulo
- Loureiro, José
- Tada, Masayoshi
- Hannequin, Didier
- Anheim, Mathieu
- Goizet, Cyril
- Gonzalez-Martinez, Victoria
- Le Ber, Isabelle
- Forlani, Sylvie
- Iwabuchi, Kiyoshi
- Meiner, Vardiela
- Uyanik, Goekhan
- Erichsen, Anne Kjersti
- Feki, Imed
- Pasquier, Florence
- Belarbi, Soreya
- Cruz, Vitor T
- Depienne, Christel
- Truchetto, Jeremy
- Garrigues, Guillaume
- Tallaksen, Chantal
- Tranchant, Christine
- Nishizawa, Masatoyo
- Vale, José
- Coutinho, Paula
- Santorelli, Filippo M
- Mhiri, Chokri
- Brice, Alexis
- Durr, Alexandra
Producer: 20080501
In:
Brain : a journal of neurology vol. 131
Availability: No items available.
|
|
100.
|
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. [electronic resource] by
- Le Ber, Isabelle
- Camuzat, Agnès
- Guillot-Noel, Lena
- Hannequin, Didier
- Lacomblez, Lucette
- Golfier, Véronique
- Puel, Michèle
- Martinaud, Olivier
- Deramecourt, Vincent
- Rivaud-Pechoux, Sophie
- Millecamps, Stéphanie
- Vercelletto, Martine
- Couratier, Philippe
- Sellal, François
- Pasquier, Florence
- Salachas, François
- Thomas-Antérion, Catherine
- Didic, Mira
- Pariente, Jérémie
- Seilhean, Danielle
- Ruberg, Merle
- Wargon, Isabelle
- Blanc, Frédéric
- Camu, William
- Michel, Bernard-François
- Berger, Eric
- Sauvée, Mathilde
- Thauvin-Robinet, Christel
- Mondon, Karl
- Tournier-Lasserve, Elisabeth
- Goizet, Cyril
- Fleury, Marie
- Viennet, Gabriel
- Verpillat, Patrice
- Meininger, Vincent
- Duyckaerts, Charles
- Dubois, Bruno
- Brice, Alexis
Producer: 20131029
In:
Journal of Alzheimer's disease : JAD vol. 34
Availability: No items available.
|