Clinical utility gene card for: Biotinidase deficiency

por Küry, Sébastien, Ramaekers, Vincent, Bézieau, Stéphane, Wolf, Barry
Publicado 2012

Clinical utility gene card for: Biotinidase deficiency—update 2015

por Küry, Sébastien, Ramaekers, Vincent, Bézieau, Stéphane, Wolf, Barry
Publicado en Eur J Hum Genet (2016)

A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome

por Ramaekers, Vincent T, Sequeira, Jeffrey M, Blau, Nenad, Quadros, Edward V
Publicado 2008

Progressive Encephalopathy in a Child With Cerebral Folate Deficiency Syndrome

por Bonkowsky, Joshua L., Ramaekers, Vincent T., Quadros, Edward V., Lloyd, Michael
Publicado en J Child Neurol (2008)

Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism

por Ramaekers, Vincent T., Sequeira, Jeffrey M., Thöny, Beat, Quadros, Edward V.
Publicado en Autism Res Treat (2020)

Paraspinal Arterio-Venous Fistula in Children: Two More Cases of an Exceptional Malformation

por Farhat, Nesrine, Desprechins, Brigitte, Otto, Bernard, Ramaekers, Vincent, Seghaye, Marie-Christine
Publicado en Clin Pract (2015)

Improving Outcome in Infantile Autism with Folate Receptor Autoimmunity and Nutritional Derangements: A Self-Controlled Trial

por Ramaekers, Vincent Th., Sequeira, Jeffrey M., DiDuca, Marco, Vrancken, Géraldine, Thomas, Aurore, Philippe, Céline, Peters, Marie, Jadot, Annick, Quadros, Edward V.
Publicado en Autism Res Treat (2019)

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

por Scholl, Ute I., Choi, Murim, Liu, Tiewen, Ramaekers, Vincent T., Häusler, Martin G., Grimmer, Joanne, Tobe, Sheldon W., Farhi, Anita, Nelson-Williams, Carol, Lifton, Richard P.
Publicado 2009

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

por Padmakumar, Manisha, Jaeken, Jaak, Ramaekers, Vincent, Lagae, Lieven, Greene, Daniel, Thys, Chantal, Van Geet, Chris, BioResource, NIHR, Stirrups, Kathleen, Downes, Kate, Turro, Ernest, Freson, Kathleen
Publicado en JIMD Rep (2019)

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

por Adamsen, Dea, Ramaekers, Vincent, Ho, Horace TB, Britschgi, Corinne, Rüfenacht, Véronique, Meili, David, Bobrowski, Elise, Philippe, Paule, Nava, Caroline, Van Maldergem, Lionel, Bruggmann, Rémy, Walitza, Susanne, Wang, Joanne, Grünblatt, Edna, Thöny, Beat
Publicado en Mol Autism (2014)

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

por Cao, Xuanye, Wolf, Annika, Kim, Sung-Eun, Cabrera, Robert M., Wlodarczyk, Bogdan J., Zhu, Huiping, Parker, Margaret, Lin, Ying, Steele, John W., Han, Xiao, Ramaekers, Vincent Th, Steinfeld, Robert, Finnell, Richard H., Lei, Yunping
Publicado en J Med Genet (2021)

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

por Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami
Publicado en Am J Hum Genet (2015)