Items where Division is "03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber)"

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Gocheva, Vanya Zhivkova. Patient-reported outcomes in neuromuscular disorders – health-related quality of life and psychosocial adjustment in post-polio syndrome and Duchenne muscular dystrophy. 2019, Doctoral Thesis, University of Basel, Faculty of Medicine.


Depoorter, Antoinette. Neuronal biomarkers of cognitive development in preterm and term born infants: a multidimensional approach combining electrophysiology and peripheral blood biomarkers. 2018, Doctoral Thesis, University of Basel, Faculty of Medicine.


Bigi, Sandra and Fischer, Urs and Wehrli, Edith and Mattle, Heinrich P. and Boltshauser, Eugen and Bürki, Sarah and Jeannet, Pierre-Yves and Fluss, Joel and Weber, Peter and Nedeltchev, Krassen and El-Koussy, Marwan and Steinlin, Maja and Arnold, Marcel. (2011) Acute ischemic stroke in children versus young adults. Annals of neurology, Vol. 70, H. 2. pp. 245-254.

Dill, Patricia and Schneider, Jacques and Weber, Peter and Trachsel, Daniel and Tekin, Mustafa and Jakobs, Cornelis and Thöny, Beat and Blau, Nenad. (2011) Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Molecular genetics and metabolism, Vol. 104, no. 3. pp. 362-368.

Filges, I. and Röthlisberger, B. and Blattner, A. and Boesch, N. and Demougin, P. and Wenzel, F. and Huber, A. R. and Heinimann, K. and Weber, P. and Miny, P.. (2011) Deletion in Xp22.11 : PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clinical genetics, Vol. 79, H. 1. pp. 79-85.

Filges, Isabel and Shimojima, Keiko and Okamoto, Nobuhiko and Röthlisberger, Benno and Weber, Peter and Huber, Andreas R. and Nishizawa, Tsutomu and Datta, Alexandre N. and Miny, Peter and Yamamoto, Toshiyuki. (2011) Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. Journal of medical genetics, Vol. 48, H. 2. pp. 117-122.

Fischmann, Arne and Gloor, Monika and Fasler, Susanne and Haas, Tanja and Rodoni Wetzel, Rachele and Bieri, Oliver and Wetzel, Stephan and Heinimann, Karl and Scheffler, Klaus and Fischer, Dirk. (2011) Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy. Journal of neurology, Vol. 258, H. 7. pp. 1333-1340.

Gloor, Monika and Fasler, Susanne and Fischmann, Arne and Haas, Tanja and Bieri, Oliver and Heinimann, Karl and Wetzel, Stephan G. and Scheffler, Klaus and Fischer, Dirk. (2011) Quantification of fat infiltration in oculopharyngeal muscular dystrophy : comparison of three MR imaging methods. Journal of magnetic resonance imaging, Vol. 33, H. 1. pp. 203-210.

Hilbert, P. and Frank, S. and Raheem, O. and Suominen, T. and Penttilä, S. and Udd, B. and Fischer, D.. (2011) Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita. Acta neurologica scandinavica, 124. pp. 146-147.

Papi?, Lea and Fischer, Dirk and Trajanoski, Slave and Höftberger, Romana and Fischer, Carina and Ströbel, Thomas and Schmidt, Wolfgang M. and Bittner, Reginald E. and Schabhüttl, Maria and Gruber, Karin and Pieber, Thomas R. and Janecke, Andreas R. and Auer-Grumbach, Michaela. (2011) SNP-array based whole genome homozygosity mapping : a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients. European journal of medical genetics, Vol. 54, H. 3. pp. 214-219.

Treves, S. and Vukcevic, M. and Jeannet, P. Y. and Levano, S. and Girard, T. and Urwyler, A. and Fischer, D. and Voit, T. and Jungbluth, H. and Lillis, S. and Muntoni, F. and Quinlivan, R. and Sarkozy, A. and Bushby, K. and Zorzato, F.. (2011) Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Human Molecular Genetics, 20 (3). pp. 589-600.

Ullrich, N. D. and Fischer, D. and Kornblum, C. and Walter, M. C. and Niggli, E. and Zorzato, F. and Treves, S.. (2011) Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Human Mutation, 32 (3). pp. 309-317.

Weber, P. and Bächli, H. and Schneider, J.. (2011) Chronic headaches : change as challenge. Klinische Pädiatrie, Vol. 223, H. 5. pp. 290-291.

Willi, Bettina and Fahnenstich, Hubert and Weber, Peter. (2011) Encephalitis after vaccination against H1N1 influenza virus. European journal of paediatric neurology, Vol. 15, H. 3. pp. 276-277.


Filges, Isabel and Röthlisberger, Benno and Boesch, Nemya and Weber, Peter and Wenzel, Friedel and Huber, Andreas R. and Heinimann, Karl and Miny, Peter. (2010) Interstitial deletion 1q42 in a patient with agenesis of corpus callosum : Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. American journal of medical genetics. Part A, Vol. 152, H. 4. pp. 987-993.

Frey, Sarabel G. and Chelo, David and Kinkela, Mina N. and Djoukoue, Florence and Tietche, Felix and Hatz, Christoph and Weber, Peter. (2010) Artesunate-mefloquine combination therapy in acute Plasmodium falciparum malaria in young children: a field study regarding neurological and neuropsychiatric safety. Malaria Journal, 9. p. 291.

Grunt, Sebastian and Wingeier, Kevin and Wehrli, Edith and Boltshauser, Eugen and Capone, Andrea and Fluss, Joel and Gubser-Mercati, Danielle and Jeannet, Pierre-Yves and Keller, Elmar and Marcoz, Jean-Pierre and Schmitt-Mechelke, Thomas and Weber, Peter and Weissert, Markus and Steinlin, Maja and Swiss Neuropaediatric Stroke Registry, . (2010) Cerebral sinus venous thrombosis in Swiss children. Developmental medicine and child neurology, Vol. 52, H. 12. pp. 1145-1150.

Kennerson, Marina L. and Nicholson, Garth A. and Kaler, Stephen G. and Kowalski, Bartosz and Mercer, Julian F. B. and Tang, Jingrong and Llanos, Roxana M. and Chu, Shannon and Takata, Reinaldo I. and Speck-Martins, Carlos E. and Baets, Jonathan and Almeida-Souza, Leonardo and Fischer, Dirk and Timmerman, Vincent and Taylor, Philip E. and Scherer, Steven S. and Ferguson, Toby A. and Bird, Thomas D. and De Jonghe, Peter and Feely, Shawna M. E. and Shy, Michael E. and Garbern, James Y.. (2010) Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. American journal of human genetics, Vol. 86, H. 3. pp. 343-352.

Kobel, M. and Bechtel, N. and Specht, K. and Klarhöfer, M. and Weber, P. and Scheffler, K. and Opwis, K. and Penner, I. -K.. (2010) Structural and functional imaging approaches in attention deficit/hyperactivity disorder : does the temporal lobe play a key role? Psychiatry research. Neuroimaging : the official publication of the International Society for Neuroimaging in Psychiatry, Vol. 183, No. 3. pp. 230-236.

Wattjes, Mike P. and Kley, Rudolf A. and Fischer, Dirk. (2010) Neuromuscular imaging in inherited muscle diseases. European radiology, Vol. 20, H. 10. pp. 2447-2460.

Weber, Peter. (2010) Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome. Journal of child neurology, Vol. 25, no. 3. pp. 393-396.

Zimmer, Klaus-Peter and Fischer, Ina and Mothes, Thomas and Weissen-Plenz, Gabriele and Schmitz, Martina and Wieser, Herbert and Büning, Jürgen and Lerch, Markus M. and Ciclitira, Paul C. and Weber, Peter and Naim, Hassan Y.. (2010) Endocytotic segregation of gliadin peptide 31-49 in enterocytes. Gut, Vol. 59, H. 2. pp. 300-310.

van Kuilenburg, A. B. P. and Meijer, J. and Gökcay, G. and Baykal, T. and Rubio-Gozalbo, M. E. and Mul, A. N. P. M. and de Die-Smulders, C. E. M. and Weber, P. and Mori, A. Capone and Bierau, J. and Fowler, B. and Macke, K. and Sass, J. O. and Meinsma, R. and Hennermann, J. B. and Miny, P. and Zoetekouw, L. and Roelofsen, J. and Vijzelaar, R. and Nicolai, J. and Hennekam, R. C. M.. (2010) Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. Nucleosides, nucleotides & nucleic acids, Vol. 29, H. 4-6. pp. 509-514.


Bechtel, N. and Kobel, M. and Penner, I. K. and Klarhöfer, M. and Scheffler, K. and Opwis, K. and Weber, P.. (2009) Decreased fractional anisotropy in the middle cerebellar peduncle in children with epilepsy and / or attention deficit/hyperactivity disorder : a preliminary study. Epilepsy & behavior, Vol. 15. pp. 294-298.

Clemen, Christoph S. and Fischer, Dirk and Reimann, Jens and Eichinger, Ludwig and Müller, Clemens R. and Müller, Harald D. and Goebel, Hans H. and Schröder, Rolf. (2009) How much mutant protein is needed to cause a protein aggregate myopathy in vivo? : Lessons from an exceptional desminopathy. Human mutation : variations, databases, and diseases, Vol. 30 , E490-9.

Denora, Paola S. and Schlesinger, David and Casali, Carlo and Kok, Fernando and Tessa, Alessandra and Boukhris, Amir and Azzedine, Hamid and Dotti, Maria Teresa and Bruno, Claudio and Truchetto, Jeremy and Biancheri, Roberta and Fedirko, Estelle and Di Rocco, Maja and Bueno, Clarissa and Malandrini, Alessandro and Battini, Roberta and Sickl, Elisabeth and de Leva, Maria Fulvia and Boespflug-Tanguy, Odile and Silvestri, Gabriella and Simonati, Alessandro and Said, Edith and Ferbert, Andreas and Criscuolo, Chiara and Heinimann, Karl and Modoni, Anna and Weber, Peter and Palmeri, Silvia and Plasilova, Martina and Pauri, Flavia and Cassandrini, Denise and Battisti, Carla and Pini, Antonella and Tosetti, Michela and Hauser, Erwin and Masciullo, Marcella and Di Fabio, Roberto and Piccolo, Francesca and Denis, Elodie and Cioni, Giovanni and Massa, Roberto and Della Giustina, Elvio and Calabrese, Olga and Melone, Marina A. B. and De Michele, Giuseppe and Federico, Antonio and Bertini, Enrico and Durr, Alexandra and Brockmann, Knut and van der Knaap, Marjo S. and Zatz, Mayana and Filla, Alessandro and Brice, Alexis and Stevanin, Giovanni and Santorelli, Filippo M.. (2009) Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human mutation : variations, databases, and diseases, Vol. 30 , E500-519.

Emmert, S. and Ueda, T. and Zumsteg, U. and Weber, P. and Khan, S. G. and Oh, K. S. and Boyle, J. and Laspe, P. and Zachmann, K. and Boeckmann, L. and Kuschal, C. and Bircher, A. and Kraemer, K. H.. (2009) Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Experimental dermatology, Vol. 18. pp. 64-68.

Jourdan Moser, Sonya and Cutini, Simone and Weber, Peter and Schroeter, Matthias L.. (2009) Right prefrontal brain activation due to Stroop interference is altered in attention-deficit hyperactivity disorder : a functional near-infrared spectroscopy study. Psychiatry research : an international journal for rapid communication, Vol. 173. pp. 190-195.

Kobel, Maja and Bechtel, Nina and Weber, Peter and Specht, Karsten and Klarhöfer, Markus and Scheffler, Klaus and Opwis, Klaus and Penner, Iris-Katharina. (2009) Effects of methylphenidate on working memory functioning in children with attention deficit/hyperactivity disorder. European journal of paediatric neurology, Vol. 13. pp. 516-523.

Ramelli, G. P. and Weber, P.. (2009) [Non epileptic paroxysmal movements disorders in infant]. Schweizerische Rundschau für Medizin Praxis = Revue suisse de médecine PRAXIS, Vol. 98. pp. 649-654.

Weber, Peter and Rost, Barbara. (2009) Anorexia nervosa und Nervus peronaeus-Läsion. Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, Vol. 37. pp. 469-472.

van Kuilenburg, André B. P. and Meijer, Judith and Mul, Adri N. P. M. and Hennekam, Raoul C. M. and Hoovers, Jan M. N. and de Die-Smulders, Christine E. M. and Weber, Peter and Mori, Andrea Capone and Bierau, Jörgen and Fowler, Brian and Macke, Klaus and Sass, Jörn Oliver and Meinsma, Rutger and Hennermann, Julia B. and Miny, Peter and Zoetekouw, Lida and Vijzelaar, Raymon and Nicolai, Joost and Ylstra, Bauke and Rubio-Gozalbo, M. Estela. (2009) Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Human genetics, Vol. 125, H. 5-6. pp. 581-590.


Dierick, I. and Baets, J. and Irobi, J. and Jacobs, A. and De Vriendt, E. and Deconinck, T. and Merlini, L. and Van den Bergh, P. and Rasic, V. M. and Robberecht, W. and Fischer, D. and Morales, R. J. and Mitrovic, Z. and Seeman, P. and Mazanec, R. and Kochanski, A. and Jordanova, A. and Auer-Grumbach, M. and Helderman-van den Enden, A. T. and Wokke, J. H. and Nelis, E. and De Jonghe, P. and Timmerman, V.. (2008) Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies : a genotype-phenotype correlation study. Brain, Vol. 131, H. 5. pp. 1217-1227.

Ruof, Helge and Hammer, Juerg and Tillmann, Bettina and Ghelfi, Daniela and Weber, Peter. (2008) Neuropsychological, behavioral, and adaptive functioning of Swiss children with congenital central hypoventilation syndrome. Journal of child neurology, Vol. 23, no. 11. pp. 1254-1259.

Strach, K. and Sommer, T. and Grohé, C. and Meyer, C. and Fischer, D. and Walter, M. C. and Vorgerd, M. and Reilich, P. and Bär, H. and Reimann, J. and Reuner, U. and Germing, A. and Goebel, H. H. and Lochmüller, H. and Wintersperger, B. and Schröder, R.. (2008) Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscular disorders, Vol. 18, H. 6. pp. 475-482.

This list was generated on Sun May 19 03:49:41 2024 CEST.