Abnormal development of the human cerebral cortex

Por Squier, Waney, Jansen, Anna
Publicado em 2010

Polymicrogyria: pathology, fetal origins and mechanisms

Por Squier, Waney, Jansen, Anna
Publicado em 2014

Correction: A Mutational Analysis of the Endophilin-A N-BAR Domain Performed in Living Flies

Por Jung, Anita G., Labarrera, Christina, Jansen, Anna M., Qvortrup, Klaus, Wild, Klemens, Kjaerulff, Ole
Publicado em 2010

A Mutational Analysis of the Endophilin-A N-BAR Domain Performed in Living Flies

Por Jung, Anita G., Labarerra, Christina, Jansen, Anna M., Qvortrup, Klaus, Wild, Klemens, Kjaerulff, Ole
Publicado em 2010

Uncommon Cause of Psychotic Behavior in a 9-Year-Old Girl: A Case Report

Por Van Putten, Willemina K., Hachimi-Idrissi, Said, Jansen, Anna, Van Gorp, Viola, Huyghens, Luc
Publicado em 2012

Convert your favorite protein modeling program into a mutation predictor: “MODICT”

Por Tanyalcin, Ibrahim, Stouffs, Katrien, Daneels, Dorien, Al Assaf, Carla, Lissens, Willy, Jansen, Anna, Gheldof, Alexander
Publicado no BMC Bioinformatics (2016)

A whisper-game perspective on the family communication of DNA-test results: a retrospective study on the communication process of BRCA1/2-test results between proband and relatives

Por Vos, Joël, Menko, Fred, Jansen, Anna M., van Asperen, Christi J., Stiggelbout, Anne M., Tibben, Aad
Publicado em 2010

The GPRC6A receptor displays constitutive internalization and sorting to the slow recycling pathway

Por Jacobsen, Stine Engesgaard, Ammendrup-Johnsen, Ina, Jansen, Anna Mai, Gether, Ulrik, Madsen, Kenneth Lindegaard, Bräuner-Osborne, Hans
Publicado no J Biol Chem (2017)

The BAR Domain Protein PICK1 Controls Vesicle Number and Size in Adrenal Chromaffin Cells

Por Pinheiro, Paulo S., Jansen, Anna M., de Wit, Heidi, Tawfik, Bassam, Madsen, Kenneth L., Verhage, Matthijs, Gether, Ulrik, Sørensen, Jakob B.
Publicado em 2014

Magnetic resonance measurement of muscle T2, fat-corrected T2 and fat fraction in the assessment of idiopathic inflammatory myopathies

Por Yao, Lawrence, Yip, Adrienne L., Shrader, Joseph A., Mesdaghinia, Sepehr, Volochayev, Rita, Jansen, Anna V., Miller, Frederick W., Rider, Lisa G.
Publicado no Rheumatology (Oxford) (2016)

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Por Brock, Stefanie, Stouffs, Katrien, Scalais, Emmanuel, D’Hooghe, Marc, Keymolen, Kathelijn, Guerrini, Renzo, Dobyns, William B., Di Donato, Nataliya, Jansen, Anna C.
Publicado no Eur J Hum Genet (2018)

Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

Por de Vries, Petrus J., Whittemore, Vicky H., Leclezio, Loren, Byars, Anna W., Dunn, David, Ess, Kevin C., Hook, Dena, King, Bryan H., Sahin, Mustafa, Jansen, Anna
Publicado no Pediatr Neurol (2014)

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

Por Bissay, Véronique, Van Malderen, Sophie CH, Keymolen, Kathelijn, Lissens, Willy, Peeters, Uschi, Daneels, Dorien, Jansen, Anna C, Pappaert, Gudrun, Brugada, Pedro, De Keyser, Jacques, Van Dooren, Sonia
Publicado no Eur J Hum Genet (2016)

Novel Assessment Tools to Evaluate Clinical and Laboratory Responses in a Subset of Patients Enrolled in the Rituximab in Myositis Trial

Por Rider, Lisa G., Yip, Adrienne L., Horkayne-Szakaly, Iren, Volochayev, Rita, Shrader, Joseph A., Turner, Maria L., Kong, Heidi H., Jain, Minal S., Jansen, Anna V., Oddis, Chester V., Fleisher, Thomas A., Miller, Frederick W.
Publicado no Clin Exp Rheumatol (2014)

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

Por Leventer, Richard J., Jansen, Anna, Pilz, Daniela T., Stoodley, Neil, Marini, Carla, Dubeau, Francois, Malone, Jodie, Mitchell, L. Anne, Mandelstam, Simone, Scheffer, Ingrid E., Berkovic, Samuel F., Andermann, Frederick, Andermann, Eva, Guerrini, Renzo, Dobyns, William B.
Publicado em 2010

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes

Por Vergauwen, Evelynn, Vanbinst, Anne-Marie, Brussaard, Carola, Janssens, Peter, De Clerck, Dieter, Van Lint, Michel, Houtman, Anne C., Michel, Olaf, Keymolen, Kathelijn, Lefevere, Bieke, Bohler, Susanne, Michielsen, Dirk, Jansen, Anna C., Van Velthoven, Vera, Gläsker, Sven
Publicado no Hered Cancer Clin Pract (2018)

PICK1 Deficiency Impairs Secretory Vesicle Biogenesis and Leads to Growth Retardation and Decreased Glucose Tolerance

Por Holst, Birgitte, Madsen, Kenneth L., Jansen, Anna M., Jin, Chunyu, Rickhag, Mattias, Lund, Viktor K., Jensen, Morten, Bhatia, Vikram, Sørensen, Gunnar, Madsen, Andreas N., Xue, Zhichao, Møller, Siri K., Woldbye, David, Qvortrup, Klaus, Huganir, Richard, Stamou, Dimitrios, Kjærulff, Ole, Gether, Ulrik
Publicado em 2013

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Por Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C., Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A., Helbig, Katherine L., Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah
Publicado no Brain (2016)

TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

Por Kingswood, John C, Bruzzi, Paolo, Curatolo, Paolo, de Vries, Petrus J, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C, Jozwiak, Sergiusz, Nabbout, Rima, Sauter, Matthias, Touraine, Renaud, O’Callaghan, Finbar, Zonnenberg, Bernard, Crippa, Stefania, Comis, Silvia, d’Augères, Guillaume Beaure, Belousova, Elena, Carter, Tom, Cottin, Vincent, Dahlin, Maria, Ferreira, José Carlos, Macaya, Alfons, Benedik, Mirjana Perkovic, Sander, Valentin, Youroukos, Sotirios, Castellana, Ramon, Ulker, Bulent, Feucht, Martha
Publicado no Orphanet J Rare Dis (2014)

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

Por Kingswood, John C., d’Augères, Guillaume B., Belousova, Elena, Ferreira, José C., Carter, Tom, Castellana, Ramon, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, de Vries, Petrus J., Feucht, Martha, Fladrowski, Carla, Gislimberti, Gabriella, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O’Callaghan, Finbar, Benedik, Mirjana P., Qin, Jiong, Marques, Ruben, Sander, Valentin, Sauter, Matthias, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C.
Publicado no Orphanet J Rare Dis (2017)