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Brody syndrome represents a differential diagnosis for painless exercise −induced stiffness without electrical myotonia: detection of 10 cases associated with mutations in ATP2A1 gene
Authors: Sternberg, D.; Chevessier, Frédéric; Bassez, G.; Behin, A.; Echaniz−Laguna, J. A.; Eymard, Bruno; Franques, J.; Péréon, Y.; Vicart, S.; Fontaine, B.; Hantai, B.; Fournier, F.
(Start) Date of Event
(YYYY-MM-DD):
 2011-01-01
Name of Conference/Meeting: International congress of Myology
Document Type: Poster
ID: 566014.0
Brody syndrome represents a differential diagnosis for painless exercise −induced stiffness without electrical myotonia: detection of 10 cases associated with mutations in ATP2A1 gene
Authors: Sternberg, D.; Chevessier, Frédéric; Bassez, G.; Behin, A.; Echaniz−Laguna, J. A.; Eymard, Bruno; Franques, J.; Péréon, Y.; Vicart, S.; Fontaine, B.; Hantai, B.; Fournier, F.
(Start) Date of Event
(YYYY-MM-DD):
 2011-01-01
Name of Conference/Meeting: International congress of Myology
Document Type: Poster
ID: 566334.0
Brody syndrome represents a differential diagnosis for painless exercise −induced stiffness without electrical myotonia: detection of 10 cases associated with mutations in ATP2A1 gene
Authors: Sternberg, D.; Chevessier, Frédéric; Bassez, G.; Behin, A.; Echaniz−Laguna, J. A.; Eymard, Bruno; Franques, J.; Péréon, Y.; Vicart, S.; Fontaine, B.; Hantai, B.; Fournier, F.
(Start) Date of Event
(YYYY-MM-DD):
 2011-01-01
Name of Conference/Meeting: International congress of Myology
Document Type: Poster
ID: 566791.0
Brody syndrome represents a differential diagnosis for painless exercise −induced stiffness without electrical myotonia: detection of 10 cases associated with mutations in ATP2A1 gene
Authors: Sternberg, D.; Chevessier, Frédéric; Bassez, G.; Behin, A.; Echaniz−Laguna, J. A.; Eymard, Bruno; Franques, J.; Péréon, Y.; Vicart, S.; Fontaine, B.; Hantai, B.; Fournier, F.
(Start) Date of Event
(YYYY-MM-DD):
 2011-01-01
Name of Conference/Meeting: International congress of Myology
Document Type: Poster
ID: 569720.0
Brody syndrome represents a differential diagnosis for painless exercise −induced stiffness without electrical myotonia: detection of 10 cases associated with mutations in ATP2A1 gene
Authors: Sternberg, D.; Chevessier, Frédéric; Bassez, G.; Behin, A.; Echaniz−Laguna, J. A.; Eymard, Bruno; Franques, J.; Péréon, Y.; Vicart, S.; Fontaine, B.; Hantai, B.; Fournier, F.
(Start) Date of Event
(YYYY-MM-DD):
 2011-01-01
Name of Conference/Meeting: International congress of Myology
Document Type: Poster
ID: 597810.0
Identification of an Agrin Mutation
that Causes Congenital Myasthenia
and Affects Synapse Function
Authors: Huzé, Carolin; Bauché, téphanie; Richard, Pascale; Chevessier, Frédéric; Goillot, Evelyne; Gaudon, Karen; Ammar, Asma Ben; Chaboud, Anne; Grosjean, Isabelle; Lecuyer, Heba−Aude; Bernard, Véronique; Rouche, Andrée; Alexandri, Nektaria; Kuntzer, Thierry; Fardeau, Michel; Fournier, Emmanuel; Brancaccio, Andrea; Rüegg, Markus A.; Koenig, Janine; Eymard, Bruno; Schaeffer, Laurent; Hantaï, Daniel
Date of Publication (YYYY-MM-DD): 2009-08-14
Title of Journal: The American Journal of Human Genetics
Volume: 85
Issue / Number: 2
Start Page: 155
End Page: 167
Document Type: Article
ID: 473432.0
Identification of an Agrin Mutation
that Causes Congenital Myasthenia
and Affects Synapse Function
Authors: Huzé, Carolin; Bauché, téphanie; Richard, Pascale; Chevessier, Frédéric; Goillot, Evelyne; Gaudon, Karen; Ammar, Asma Ben; Chaboud, Anne; Grosjean, Isabelle; Lecuyer, Heba−Aude; Bernard, Véronique; Rouche, Andrée; Alexandri, Nektaria; Kuntzer, Thierry; Fardeau, Michel; Fournier, Emmanuel; Brancaccio, Andrea; Rüegg, Markus A.; Koenig, Janine; Eymard, Bruno; Schaeffer, Laurent; Hantaï, Daniel
Date of Publication (YYYY-MM-DD): 2009-08-14
Title of Journal: The American Journal of Human Genetics
Volume: 85
Issue / Number: 2
Start Page: 155
End Page: 167
Document Type: Article
ID: 473574.0
 
Full text / Content available
Congenital myasthenic syndrome due to mutations in the MUSK gene: Characterization of a factor favouring axonal growth
Authors: Bauché, Stephanie; Hantai, D.; Lipecka, J.; Vinh, H.; Demay−Thomas, E.; Ben Ammar, A.; Chevessier, Frédéric; Faraut, B.; Witzemann, Veit; Rossier, Jean; Eymard, Bruno; Koenig, Janine
(Start) Date of Event
(YYYY-MM-DD):
 2008-01-01
Name of Conference/Meeting: International congress of Myology
Document Type: Poster
ID: 566006.0
Congenital myasthenic syndrome due to mutations in the MUSK gene: Characterization of a factor favouring axonal growth
Authors: Bauché, Stephanie; Hantai, D.; Lipecka, J.; Vinh, H.; Demay−Thomas, E.; Ben Ammar, A.; Chevessier, Frédéric; Faraut, B.; Witzemann, Veit; Rossier, Jean; Eymard, Bruno; Koenig, Janine
(Start) Date of Event
(YYYY-MM-DD):
 2008-01-01
Name of Conference/Meeting: International congress of Myology
Document Type: Poster
ID: 566328.0
Congenital myasthenic syndrome due to mutations in the MUSK gene: Characterization of a factor favouring axonal growth
Authors: Bauché, Stephanie; Hantai, D.; Lipecka, J.; Vinh, H.; Demay−Thomas, E.; Ben Ammar, A.; Chevessier, Frédéric; Faraut, B.; Witzemann, Veit; Rossier, Jean; Eymard, Bruno; Koenig, Janine
(Start) Date of Event
(YYYY-MM-DD):
 2008-01-01
Name of Conference/Meeting: International congress of Myology
Document Type: Poster
ID: 566775.0
Entries: 1-10  
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