SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

Human Molecular Genetics

Volumn 20, Issue 12, 2011, Pages 2297-2307

  Fassio, Anna ^a   Patry, Lysanne ^b   Congia, Sonia ^a,c   Onofri, Franco ^a   Piton, Amelie ^b   Gauthier, Julie ^b   Pozzi, Davide ^c   Messa, Mirko ^a,c   Defranchi, Enrico ^c   Fadda, Manuela ^a,c   Corradi, Anna ^a   Baldelli, Pietro ^a,c   Lapointe, Line ^b   St Onge, Judith ^b   Meloche, Caroline ^b   Mottron, Laurent ^b   Valtorta, Flavia ^d   Nguyen, Dang Khoa ^b   Rouleau, Guy A ^b   Benfenati, Fabio ^a,c   Cossette, Patrick ^a,b   more..

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF MONTREAL   (Canada)

^c ISTITUTO ITALIANO DI TECNOLOGIA   (Italy)

^d VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; MUTANT PROTEIN; SYNAPSIN I;

ANIMAL CELL; ARTICLE; AUTISM; FEMALE; FOCAL EPILEPSY; GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOUSE; NERVE FIBER GROWTH; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; SYN1 GENE; SYNAPSE VESICLE;

EID: 79957456437     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr122     Document Type: Article

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