Perfeziona i miei risultati

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Huemer, Martina ; Kožich, Viktor ; Rinaldo, Piero ; Baumgartner, Matthias ; Merinero, Begoña ; Pasquini, Elisabetta ; Ribes, Antonia ; Blom, Henk

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 6, p. 1007-1019

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Huemer, M. ; Bürer, C. ; Ješina, P. ; Kožich, V. ; Landolt, M. ; Suormala, T. ; Fowler, B. ; Augoustides- Savvopoulou, P. ; Blair, E. ; Brennerova, K. ; Broomfield, A. ; De Meirleir, L. ; Gökcay, G. ; Hennermann, J. ; Jardine, P. ; Koch, J. ; Lorenzl, S. ; Lotz-Havla, A. ; Noss, J. ; Parini, R. ; Peters, H. ; Plecko, B. ; Ramos, F. ; Schlune, A. ; Tsiakas, K. ; Zerjav Tansek, M. ; Baumgartner, M.

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 957-967

Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice

Volpi, Vera G. ; Ferri, Cinzia ; Fregno, Ilaria ; Del Carro, Ubaldo ; Bianchi, Francesca ; Scapin, Cristina ; Pettinato, Emanuela ; Solda, Tatiana ; Feltri, M. Laura ; Molinari, Maurizio ; Wrabetz, Lawrence ; D’Antonio, Maurizio

In: PLOS genetics, 2019, vol. 15, no. 4, p. e1008069

In the peripheral nervous system (PNS) myelinating Schwann cells synthesize large amounts of myelin protein zero (P0) glycoprotein, an abundant component of peripheral nerve myelin. In humans, mutations in P0 cause the demyelinating Charcot-Marie-Tooth 1B (CMT1B) neuropathy, one of the most diffused genetic disorders of the PNS. We previously showed that several mutations, such as the...

Impact of variable CYP genotypes on breast cancer relapse in patients undergoing adjuvant tamoxifen therapy

Mwinyi, Jessica ; Vokinger, Kerstin ; Jetter, Alexander ; Breitenstein, Urs ; Hiller, Christian ; Kullak-Ublick, Gerd ; Trojan, Andreas

In: Cancer Chemotherapy and Pharmacology, 2014, vol. 73, no. 6, p. 1181-1188

Effects of phenotypes in heterocyclic aromatic amine (HCA) metabolism-related genes on the association of HCA intake with the risk of colorectal adenomas

Barbir, Aline ; Linseisen, Jakob ; Hermann, Silke ; Kaaks, Rudolf ; Teucher, Birgit ; Eichholzer, Monika ; Rohrmann, Sabine

In: Cancer Causes & Control, 2012, vol. 23, no. 9, p. 1429-1442

Single-gene knockout of a novel regulatory element confers ethionine resistance and elevates methionine production in Corynebacterium glutamicum

Mampel, Jörg ; Schröder, Hartwig ; Haefner, Stefan ; Sauer, Uwe

In: Applied Microbiology and Biotechnology, 2005, vol. 68, no. 2, p. 228-236

Canine distemper virus persistence in demyelinating encephalitis by swift intracellular cell-to-cell spread in astrocytes is controlled by the viral attachment protein

Wyss-Fluehmann, Gaby ; Zurbriggen, Andreas ; Vandevelde, Marc ; Plattet, Philippe

In: Acta Neuropathologica, 2010, vol. 119, no. 5, p. 617-630

Ammonia toxicity to the brain

Braissant, Olivier ; McLin, Valérie ; Cudalbu, Cristina

In: Journal of Inherited Metabolic Disease, 2013, vol. 36, no. 4, p. 595-612

Demyelination in canine distemper virus infection: a review

Vandevelde, Marc ; Zurbriggen, Andreas

In: Acta Neuropathologica, 2005, vol. 109, no. 1, p. 56-68

Mechanisms of IVIG Efficacy in Chronic Inflammatory Demyelinating Polyneuropathy

Tackenberg, Björn ; Nimmerjahn, Falk ; Lünemann, Jan

In: Journal of Clinical Immunology, 2010, vol. 30, p. 65-69