Consensus clinical management guidelines for Niemann-Pick disease type C
Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T, Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J, Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A, Ory, Daniel, Bembi, Bruno, Patterson, Marc
Published in Orphanet journal of rare diseases (06.04.2018)
Published in Orphanet journal of rare diseases (06.04.2018)
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Journal Article
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Bolton, Shaun C, Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C, Vanier, Marie T, Geberhiwot, Tarekegn
Published in Orphanet journal of rare diseases (14.02.2022)
Published in Orphanet journal of rare diseases (14.02.2022)
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Journal Article
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
Stampfer, Miriam, Theiss, Susanne, Amraoui, Yasmina, Jiang, Xuntian, Keller, Sigrid, Ory, Daniel S, Mengel, Eugen, Fischer, Christine, Runz, Heiko
Published in Orphanet journal of rare diseases (22.02.2013)
Published in Orphanet journal of rare diseases (22.02.2013)
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Journal Article
Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis
Surmeli-Onay, Ozge, Yakarisik, Selin, Korkmaz, Ayse, Akcoren, Zuhal, Yuce, Aysel, Runz, Heiko, Stampfer, Miriam, Yurdakok, Murat
Published in Pediatrics and neonatology (01.10.2013)
Published in Pediatrics and neonatology (01.10.2013)
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Journal Article
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
Reuter, Miriam S, Riess, Angelika, Moog, Ute, Briggs, Tracy A, Chandler, Kate E, Rauch, Anita, Stampfer, Miriam, Steindl, Katharina, Gläser, Dieter, Joset, Pascal, Krumbiegel, Mandy, Rabe, Harald, Schulte-Mattler, Uta, Bauer, Peter, Beck-Wödl, Stefanie, Kohlhase, Jürgen, Reis, André, Zweier, Christiane
Published in Journal of medical genetics (01.01.2017)
Published in Journal of medical genetics (01.01.2017)
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Journal Article
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C
Gburek-Augustat, Janina, Groeschel, Samuel, Kern, Jan, Beck-Woedl, Stefanie, Just, Jennifer, Harzer, Klaus, Stampfer, Miriam, Kraegeloh-Mann, Ingeborg
Published in Neuropediatrics (01.02.2020)
Published in Neuropediatrics (01.02.2020)
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Journal Article
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Morison, Lottie D, Meffert, Elisabeth, Stampfer, Miriam, Steiner-Wilke, Irene, Vollmer, Brigitte, Schulze, Katrin, Briggs, Tracy, Braden, Ruth, Vogel, Adam, Thompson-Lake, Daisy, Patel, Chirag, Blair, Edward, Goel, Himanshu, Turner, Samantha, Moog, Ute, Riess, Angelika, Liegeois, Frederique, Koolen, David A, Amor, David J, Kleefstra, Tjitske, Fisher, Simon E, Zweier, Christiane, Morgan, Angela T
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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Journal Article
International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study
Evans, William, Patterson, Marc, Platt, Frances, Guldberg, Christina, Mathieson, Toni, Pacey, Jessica
Published in Orphanet journal of rare diseases (18.11.2021)
Published in Orphanet journal of rare diseases (18.11.2021)
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Journal Article
A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
Dufke, Andreas, Hoopmann, Markus, Waldmüller, Stephan, Prodan, Natalia Carmen, Beck‐Wödl, Stefanie, Grasshoff, Ute, Heinrich, Tilman, Riess, Angelika, Kehrer, Martin, Falb, Ruth J., Liebmann, Alexandra, Roggia, Cristiana, Stampfer, Miriam, Schadeck, Malou, Müller, Amelie J., Grimmel, Mona, Stöbe, Petra, Gauck, Darja, Buchert‐Lo, Rebecca, Baumann, Sarah, Schäferhoff, Karin, Bertrand, Miriam, Menden, Benita, Sturm, Marc, Schütz, Leon, Riess, Olaf, Ossowski, Stephan, Haack, Tobias B., Kagan, Karl Oliver
Published in Prenatal diagnosis (01.06.2022)
Published in Prenatal diagnosis (01.06.2022)
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Journal Article
Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis
Surmeli-Onay, Ozge, Yakarisik, Selin, Korkmaz, Ayse, Akcoren, Zuhal, Yuce, Aysel, Runz, Heiko, Stampfer, Miriam, Yurdakok, Murat
Published in Pediatrics and neonatology (01.10.2013)
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Published in Pediatrics and neonatology (01.10.2013)
Journal Article