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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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
Patterson, Marc C, Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M, Ory, Daniel S, Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T, Walterfang, Mark, Marquardt, Thorsten
Published in Neurology. Clinical practice (01.12.2017)
Published in Neurology. Clinical practice (01.12.2017)
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Amyloid-β Contributes to Blood―Brain Barrier Leakage in Transgenic Human Amyloid Precursor Protein Mice and in Humans With Cerebral Amyloid Angiopathy
HARTZ, Anika M. S, BAUER, Björn, SCHLACHETZKI, Felix, SOLDNER, Emma L. B, WOLF, Andrea, BOY, Sandra, BACKHAUS, Roland, MIHALJEVIC, Ivan, BOGDAHN, Ulrich, KLÜNEMANN, Hans H, SCHUIERER, Gerhard
Published in Stroke (1970) (01.02.2012)
Published in Stroke (1970) (01.02.2012)
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Journal Article
Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review
Bonnot, Olivier, Klünemann, Hans Hermann, Sedel, Frederic, Tordjman, Sylvie, Cohen, David, Walterfang, Mark
Published in Orphanet journal of rare diseases (28.04.2014)
Published in Orphanet journal of rare diseases (28.04.2014)
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Journal Article
Niemann-Pick disease type C symptomatology: an expert-based clinical description
Mengel, Eugen, Klünemann, Hans-Hermann, Lourenço, Charles M, Hendriksz, Christian J, Sedel, Frédéric, Walterfang, Mark, Kolb, Stefan A
Published in Orphanet journal of rare diseases (17.10.2013)
Published in Orphanet journal of rare diseases (17.10.2013)
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Journal Article
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study
Bauer, Peter, Balding, David J, Klünemann, Hans H, Linden, David E J, Ory, Daniel S, Pineda, Mercè, Priller, Josef, Sedel, Frederic, Muller, Audrey, Chadha-Boreham, Harbajan, Welford, Richard W D, Strasser, Daniel S, Patterson, Marc C
Published in Human molecular genetics (01.11.2013)
Published in Human molecular genetics (01.11.2013)
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Journal Article
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders
Zech, Michael, Nübling, Georg, Castrop, Florian, Jochim, Angela, Schulte, Eva C, Mollenhauer, Brit, Lichtner, Peter, Peters, Annette, Gieger, Christian, Marquardt, Thorsten, Vanier, Marie T, Latour, Philippe, Klünemann, Hans, Trenkwalder, Claudia, Diehl-Schmid, Janine, Perneczky, Robert, Meitinger, Thomas, Oexle, Konrad, Haslinger, Bernhard, Lorenzl, Stefan, Winkelmann, Juliane
Published in PloS one (30.12.2013)
Published in PloS one (30.12.2013)
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Journal Article
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Hendriksz, Christian J, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Chakrapani, Anupam, Corvol, Jean-Christophe, de Koning, Tom J, Degtyareva, Anna, Dionisi-Vici, Carlo, Doss, Sarah, Duning, Thomas, Giunti, Paola, Iodice, Rosa, Johnston, Tracy, Kelly, Dierdre, Klünemann, Hans-Hermann, Lorenzl, Stefan, Padovani, Alessandro, Pocovi, Miguel, Synofzik, Matthis, Terblanche, Alta, Then Bergh, Florian, Topçu, Meral, Tranchant, Christine, Walterfang, Mark, Velten, Christian, Kolb, Stefan A
Published in Current medical research and opinion (04.05.2017)
Published in Current medical research and opinion (04.05.2017)
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A visual [18F]FDG-PET rating scale for the differential diagnosis of frontotemporal lobar degeneration
Poljansky, Stefan, Ibach, Bernd, Hirschberger, Barbara, Männer, Peter, Klünemann, Hans, Hajak, Göran, Marienhagen, Jörg
Published in European archives of psychiatry and clinical neuroscience (01.09.2011)
Published in European archives of psychiatry and clinical neuroscience (01.09.2011)
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Journal Article
Sustained Effects of Once-Daily Memantine Treatment on Cognition and Functional Communication Skills in Patients with Moderate to Severe Alzheimer's Disease: Results of a 16-Week Open-Label Trial
Schulz, Jörg B., Rainer, Michael, Klünemann, Hans-Hermann, Kurz, Alexander, Wolf, Stefanie, Sternberg, Kati, Tennigkeit, Frank
Published in Journal of Alzheimer's disease (01.01.2011)
Published in Journal of Alzheimer's disease (01.01.2011)
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Journal Article
Differential impact of ApoE ε4 on cortical activation during famous face recognition in cognitively intact individuals and patients with amnestic mild cognitive impairment
Frank, Gabriele, Hennig-Fast, Kristina, Klünemann, Hans H, Schmitz, Gerd, Greenlee, Mark W
Published in Alzheimer disease and associated disorders (01.07.2011)
Published in Alzheimer disease and associated disorders (01.07.2011)
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Journal Article
Rare variants in LRRK1 and Parkinson's disease
Schulte, Eva C., Ellwanger, Daniel C., Dihanich, Sybille, Manzoni, Claudia, Stangl, Katrin, Schormair, Barbara, Graf, Elisabeth, Eck, Sebastian, Mollenhauer, Brit, Haubenberger, Dietrich, Pirker, Walter, Zimprich, Alexander, Brücke, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Trenkwalder, Claudia, Mewes, Hans-Werner, Meitinger, Thomas, Lewis, Patrick A., Klünemann, Hans H., Winkelmann, Juliane
Published in Neurogenetics (01.03.2014)
Published in Neurogenetics (01.03.2014)
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Journal Article
Implementation of a cost-effective HPLC/UV approach for routine medical quantification of memantine in human serum
Haen, Ekkehard, Koeber, Ralf, Klünemann, Hans-Hermann, Waimer, Reinhold, Köstlbacher, Anton, Wittmann, Markus, Brandl, Regina, Dörfelt, Anett, Jahner, Tatjana, Melchner, Doris
Published in Therapeutic drug monitoring (01.12.2012)
Published in Therapeutic drug monitoring (01.12.2012)
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Journal Article
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2
Klünemann, Hans H., Elleder, Milan, Kaminski, Wolfgang E., Snow, Karen, Peyser, Janis M., O'Brien, John F., Munoz, David, Schmitz, Gerd, Klein, Helmfried E., Pendlebury, William W.
Published in Annals of neurology (01.12.2002)
Published in Annals of neurology (01.12.2002)
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