Results 41 to 50 of about 4,840 (178)

Image_1_Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse.TIF

, 2023
Over the last decade, a large variety of alterations of the Contactin Associated Protein 2 (CNTNAP2) gene, encoding Caspr2, have been identified in several neuronal disorders, including neurodevelopmental disorders and peripheral neuropathies.
Carmen Cifuentes-Diaz (203836), Giorgia Canali (14519114), Corentin Le Magueresse (160441), Taylor Manett (14519120), Camille Guillaume (14519126), Marta Garcia (203844), Laurence Goutebroze (55555), Mythili Savariradjane (14519123), Mélanie Druart (14519117)   +8 more
core   +1 more source

Data_Sheet_1_Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse.PDF

, 2023
Over the last decade, a large variety of alterations of the Contactin Associated Protein 2 (CNTNAP2) gene, encoding Caspr2, have been identified in several neuronal disorders, including neurodevelopmental disorders and peripheral neuropathies.
Carmen Cifuentes-Diaz (203836), Giorgia Canali (14519114), Corentin Le Magueresse (160441), Taylor Manett (14519120), Camille Guillaume (14519126), Marta Garcia (203844), Laurence Goutebroze (55555), Mythili Savariradjane (14519123), Mélanie Druart (14519117)   +8 more
core   +1 more source

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior

Frontiers in Neurology, 2022
We report the genetic analysis of two consanguineous pedigrees of Pakistani ancestry in which two siblings in each family exhibited developmental delay, epilepsy, intellectual disability and aggressive behavior.
Noor Badshah, Noor Badshah, Kari A. Mattison, Kari A. Mattison, Sohail Ahmad, Pankaj Chopra, H. Richard Johnston, Shakoor Ahmad, Sher Hayat Khan, Muhammad Tahir Sarwar, David J. Cutler, Micheal Taylor, Gayatri Vadlamani, Michael E. Zwick, Andrew Escayg   +14 more
doaj   +1 more source

Image_2_Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse.TIF

, 2023
Over the last decade, a large variety of alterations of the Contactin Associated Protein 2 (CNTNAP2) gene, encoding Caspr2, have been identified in several neuronal disorders, including neurodevelopmental disorders and peripheral neuropathies.
Carmen Cifuentes-Diaz (203836), Giorgia Canali (14519114), Corentin Le Magueresse (160441), Taylor Manett (14519120), Camille Guillaume (14519126), Marta Garcia (203844), Laurence Goutebroze (55555), Mythili Savariradjane (14519123), Mélanie Druart (14519117)   +8 more
core   +1 more source

Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders [PDF]

Molecular Syndromology, 2015
Based on genomic rearrangements and copy number variations, the contactin-associated protein-like 2 gene <i>(CNTNAP2)</i> has been implicated in neurodevelopmental disorders such as Gilles de la Tourette syndrome, intellectual disability, obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt ...
openaire   +2 more sources

CNTNAP2 and Language Processing in Healthy Individuals as Measured with ERPs [PDF]

PLoS ONE, 2012
The genetic FOXP2-CNTNAP2 pathway has been shown to be involved in the language capacity. We investigated whether a common variant of CNTNAP2 (rs7794745) is relevant for syntactic and semantic processing in the general population by using a visual sentence processing paradigm while recording ERPs in 49 healthy adults.
Kos, M., Van den Brink, D., Snijders, T., Rijpkema, M., Franke, B., Fernandez, G., Hagoort, P., Whitehouse, A.   +7 more
openaire   +7 more sources

Loss ofCntnap2Causes Axonal Excitability Deficits, Developmental Delay in Cortical Myelination, and Abnormal Stereotyped Motor Behavior [PDF]

, 2017
Contactin-associated protein-like 2 (Caspr2) is found at the nodes of Ranvier and has been associated with physiological properties of white matter conductivity.
Dehorter, Nathalie, Sánchez-Aguilera López, Alberto, Marín, Óscar, Elst, Kim van, Nathalie Dehorter, Kas, Martien J.H., Sung Eun Bae, Hilgo Bruining, Lim, Lynette, Kim van Elst, Alberto Sánchez-Aguilera, Peles, Elior, Kas, Martien J H, van Elst, Kim, Elior Peles, Peler, Elior, Martien J H Kas, Oscar Marín, Sanchez Aguilera, Alberto, Bruining, Hilgo, Marin, Oscar; id_orcid, Lynette Lim, Scott, Ricardo, Bartolini, Giorgia, Ricardo Scott, Bae, Sung Eun, Giorgia Bartolini   +26 more
core   +1 more source

Loss of CNTNAP2 Alters Human Cortical Excitatory Neuron Differentiation and Neural Network Development [PDF]

, 2023
BACKGROUND: Loss-of-function mutations in the contactin-associated protein-like 2 (CNTNAP2) gene are causal for neurodevelopmental disorders, including autism, schizophrenia, epilepsy and intellectual disability.
Haneklaus, Moritz, St George-Hyslop, Frances, Livesey, Frederick J, Kivisild, Toomas   +3 more
core   +1 more source

The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study. [PDF]

PLoS ONE, 2015
The establishment and maintenance of neuronal circuits depends on tight regulation of synaptic contacts. We hypothesized that CNTNAP2, a protein associated with autism, would play a key role in this process.
Amos Gdalyahu, Maria Lazaro, Olga Penagarikano, Peyman Golshani, Joshua T Trachtenberg, Daniel H Geschwind   +5 more
doaj   +1 more source

Assessing the Cntnap2 knockout rat prepulse inhibition deficit through prepulse scaling of the baseline startle response curve

Translational Psychiatry, 2023
Many neurodevelopmental disorders, including autism spectrum disorder (ASD), are associated with changes in sensory processing and sensorimotor gating. The acoustic startle response and prepulse inhibition (PPI) of startle are widely used translational ...
Alaa El-Cheikh Mohamad, Dorit Möhrle, Faraj L. Haddad, Anton Rose, Brian L. Allman, Susanne Schmid   +5 more
doaj   +1 more source