Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

por Mihai, Cristina M, Marshall, Jan D, Stoicescu, Ramona M
Publicado 2011

Alström Syndrome: Genetics and Clinical Overview

por Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K
Publicado 2011

Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability

por Frölander, Hans-Erik, Möller, Claes, Rudner, Mary, Mishra, Sushmit, Marshall, Jan D., Piacentini, Heather, Lyxell, Björn
Publicado 2015

Familial Alström syndrome: a rare cause of bilateral progressive hearing loss ,

por Bahmad, Fayez, Costa, Carolina Sousa Alves, Teixeira, Marina Santos, de Barros Filho, Jairo, Viana, Lucas Moura, Marshall, Jan
Publicado 2014

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway

por Collin, Gayle B., Marshall, Jan D., King, Benjamin L., Milan, Gabriella, Maffei, Pietro, Jagger, Daniel J., Naggert, Jürgen K.
Publicado 2012

GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1(GT/GT), a Mouse Model for Obesity and Insulin Resistance

por Favaretto, Francesca, Milan, Gabriella, Collin, Gayle B., Marshall, Jan D., Stasi, Fabio, Maffei, Pietro, Vettor, Roberto, Naggert, Jürgen K.
Publicado 2014

Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes

por Paisey, Richard B., Paisey, Rosamund M., Thomson, Mary P., Bower, Lynne, Maffei, Pietro, Shield, Julian P.H., Barnett, Sue, Marshall, Jan D.
Publicado 2009

Brain involvement in Alström syndrome

por Citton, Valentina, Favaro, Angela, Bettini, Vera, Gabrieli, Joseph, Milan, Gabriella, Greggio, Nella Augusta, Marshall, Jan D, Naggert, Jürgen K, Manara, Renzo, Maffei, Pietro
Publicado 2013

Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome

por Paisey, Richard B., Smith, Jamie, Carey, Catherine, Barrett, Timothy, Campbell, Fiona, Maffei, Pietro, Marshall, Jan D., Paisey, Christopher, Steeds, Richard P., Edwards, Nicola C., Bunce, Susan, Geberhiwot, Tarekegn
Publicado 2015

ALMS1-Deficient Fibroblasts Over-Express Extra-Cellular Matrix Components, Display Cell Cycle Delay and Are Resistant to Apoptosis

por Zulato, Elisabetta, Favaretto, Francesca, Veronese, Caterina, Campanaro, Stefano, Marshall, Jan D., Romano, Sara, Cabrelle, Anna, Collin, Gayle B., Zavan, Barbara, Belloni, Anna S., Rampazzo, Enrica, Naggert, Jürgen K., Abatangelo, Giovanni, Sicolo, Nicola, Maffei, Pietro, Milan, Gabriella, Vettor, Roberto
Publicado 2011