MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Milic Rasic, Vedrana, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, Timmerman, Vincent
Published in Brain (London, England : 1878) (01.08.2006)
Published in Brain (London, England : 1878) (01.08.2006)
Get full text
Journal Article
Herpes simplex virus encephalitis – an unexpected relapse with choreoathetosis
Get full text
Conference Proceeding
Endocrinological study on growth retardation in Rett syndrome
Huppke, P, Roth, C, Christen, HJ, Brockmann, K, Hanefeld, F
Published in Acta Paediatrica (01.11.2001)
Published in Acta Paediatrica (01.11.2001)
Get full text
Journal Article
Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy
Donner, Kati, Ollikainen, Miina, Ridanpää, Maaret, Christen, Hans-Jürgen, Goebel, Hans H, de Visser, Marianne, Pelin, Katarina, Wallgren-Pettersson, Carina
Published in Neuromuscular disorders : NMD (01.02.2002)
Published in Neuromuscular disorders : NMD (01.02.2002)
Get full text
Journal Article
Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes
Kirschner, Janbernd, Hausser, Ingrid, Zou, Yaqun, Schreiber, Gudrun, Christen, Hans-Jürgen, Brown, Susan C., Anton-Lamprecht, Ingrun, Muntoni, Francesco, Hanefeld, Folker, Bönnemann, Carsten G.
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
Get full text
Journal Article
Mitochondrial Neuronal Gastrointestinal Encephalopathy (MNGIE): Differenzial diagnosis of gastrointestinal motility disorder, leucencephalopathy, peripheral neuropathy without mental retardation
Illsinger, S, Schubert, C, Bültmann, E, Christen, HJ, Czermin, B, Pfister, ED, Baumann, U, Hartmann, H, Das, AM
Published in Neuropediatrics (28.03.2011)
Published in Neuropediatrics (28.03.2011)
Get full text
Conference Proceeding
Pyridoxine dependent epileptic encephalopathy mimicking neonatal abstinence syndrome – a case report with video documentation
Richter, JW, Kim, S, Paul, K, Paschke, E, Plecko, B, Kattner, E, Christen, HJ
Published in Neuropediatrics (07.04.2009)
Published in Neuropediatrics (07.04.2009)
Get full text
Conference Proceeding
Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved
Assmann, B, Hoffmann, GF, Christen, HJ, Moers, A von, Sanger, T, Mordekar, S, Jardine, P, Lewis, T, Wraige, E, Shermin-Levine, S, Heales, S, Gissen, P, Mayatepek, E, Maher, E, Kurian, MA
Published in Neuropediatrics (26.08.2010)
Published in Neuropediatrics (26.08.2010)
Get full text
Conference Proceeding
Acute cerebellitis with fatal and near-fatal course
Hartmann, H, Brockmann, K, Riedel, J, Lücke, T, Das, AM, Rosewich, H, Schiffmann, H, Christen, HJ
Published in Neuropediatrics (20.09.2006)
Published in Neuropediatrics (20.09.2006)
Get full text
Conference Proceeding
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
Müller, Juliane S, Abicht, Angela, Christen, Hans-Jürgen, Stucka, Rolf, Schara, Ulrike, Mortier, Wilhelm, Huebner, Angela, Lochmüller, Hanns
Published in Neuromuscular disorders : NMD (01.11.2004)
Published in Neuromuscular disorders : NMD (01.11.2004)
Get full text
Journal Article
Acute peripheral facial palsy in Lyme disease -- a distal neuritis at the infection site
Eiffert, H, Karsten, A, Schlott, T, Ohlenbusch, A, Laskawi, R, Hoppert, M, Christen, H-J
Published in Neuropediatrics (01.10.2004)
Published in Neuropediatrics (01.10.2004)
Get more information
Journal Article
Einsatz eines Glucosesensors zur Differenzialdiagnose einer Epilepsie bei rezidivierenden epileptischen Anfällen unter Insulintherapie bei Diabetes Mellitus Typ 1
Biester, T, Datz, N, Remus, K, Bläsig, S, Kracht, T, Scarabello, C, Christen, HJ, Kordonouri, O, Danne, T
Published in Diabetologie und Stoffwechsel (09.05.2011)
Published in Diabetologie und Stoffwechsel (09.05.2011)
Get full text
Conference Proceeding
Treatment of primary malignant rhabdoid tumor of the brain: report of three cases and review of the literature
Weiss, Elisabeth, Behring, Bettina, Behnke, Julianne, Christen, Hans-J, Pekrun, Arnulf, Hess, Clemens F
Published in International journal of radiation oncology, biology, physics (15.07.1998)
Published in International journal of radiation oncology, biology, physics (15.07.1998)
Get full text
Journal Article