Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

por Ostergaard, John R.
Publicado 2023

Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

por Ostergaard, John R.
Publicado 2023

Perspective having a Centre of Expertise that covers more than one rare disease

por Ostergaard, John R
Publicado 2014

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

por Ostergaard, John R
Publicado 2016

Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses

por Ostergaard, John R., Nelvagal, Hemanth R., Cooper, Jonathan D.
Publicado 2022

Developmental Enamel Defects in Children Prenatally Exposed to Anti-Epileptic Drugs

por Jacobsen, Pernille E., Henriksen, Tine B., Haubek, Dorte, Østergaard, John R.
Publicado 2013

Prenatal Exposure to Antiepileptic Drugs and Dental Agenesis

por Jacobsen, Pernille E., Henriksen, Tine B., Haubek, Dorte, Østergaard, John R.
Publicado 2014

Respiratory distress syndrome in moderately late and late preterm infants and risk of cerebral palsy: a population-based cohort study

por Thygesen, Sandra Kruchov, Olsen, Morten, Østergaard, John R, Sørensen, Henrik Toft
Publicado 2016

Pacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)–A Long-Term Follow-Up Study

por Handrup, Mette Møller, Mølgaard, Henning, Andersen, Brian N., Ostergaard, John R.
Publicado 2022

Constipation in adults with neurofibromatosis type 1

por Ejerskov, Cecilie, Krogh, Klaus, Ostergaard, John R., Fassov, Janne L., Haagerup, Annette
Publicado 2017

Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

por Ejerskov, Cecilie, Gaustadnes, Mette, Ostergaard, John R., Krogh, klaus, Thorsen, Kasper, Borglum, Anders D., Haagerup, Annette
Publicado 2021

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

por Wallentin, Mikkel, Skakkebæk, Anne, Bojesen, Anders, Fedder, Jens, Laurberg, Peter, Østergaard, John R., Hertz, Jens Michael, Pedersen, Anders Degn, Gravholt, Claus Højbjerg
Publicado 2016

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

por Groth, Kristian A., Hove, Hanne, Kyhl, Kasper, Folkestad, Lars, Gaustadnes, Mette, Vejlstrup, Niels, Stochholm, Kirstine, Østergaard, John R., Andersen, Niels H., Gravholt, Claus H.
Publicado 2015

Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement

por Skakkebæk, Anne, Moore, Philip J., Pedersen, Anders Degn, Bojesen, Anders, Kristensen, Maria Krarup, Fedder, Jens, Hertz, Jens Michael, Østergaard, John R., Wallentin, Mikkel, Gravholt, Claus Højbjerg
Publicado 2018

Employment, occupation, and income in adults with neurofibromatosis 1 in Denmark: a population- and register-based cohort study

por Kenborg, Line, Frederiksen, Line E., Galanakis, Michael, Doser, Karoline, Nielsen, Thomas T., Doherty, Mia Aagaard, Hove, Hanne, Østergaard, John R., Handrup, Mette M., Ejerskov, Cecilie, Mulvihill, John J., Winther, Jeanette F.
Publicado 2023

Cohort profile: life with neurofibromatosis 1 – the Danish NF1 cohort

por Doser, Karoline, Hove, Hanne, Østergaard, John R, Bidstrup, Pernille E, Dalton, Susanne O, Handrup, Mette Møller, Ejerskov, Cecilie, Krøyer, Anja, Doherty, Mia Aagaard, Møllegaard Jepsen, Jens Richardt, Mulvihill, John J, Winther, Jeanette F, Kenborg, Line
Publicado 2022

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

por Regalado, Ellen S., Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C., Ades, Lesley, Benedict, Susan, Bradley, Timothy J., Brickner, M. Elizabeth, Chatfield, Kathryn C., Child, Anne, Feist, Cori, Holmes, Kathryn W., Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A., Mitchell, Anna L., Ostergaard, John R., Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M.
Publicado 2018

Altered PLP1 splicing causes hypomyelination of early myelinating structures

por Kevelam, Sietske H, Taube, Jennifer R, van Spaendonk, Rosalina M L, Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A, Bernard, Geneviève, Catsman-Berrevoets, Coriene E, van Karnebeek, Clara D M, Østergaard, John R, Friederich, Richard L, Fawzi Elsaid, Mahmoud, Schieving, Jolanda H, Tarailo-Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E, van Berkel, Carola G M, Waisfisz, Quinten, Abbink, Truus E M, van der Knaap, Marjo S, Hobson, Grace M, Wolf, Nicole I
Publicado 2015

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

por Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
Publicado 2020