Authors' response

Por Savige, Judy
Publicado em 1999

Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment

Por Savige, Judy
Publicado em 2014

Haematuria in asymptomatic individuals : It is often caused by inherited thinning of the glomerular membrane

Por Savige, Judy, Buzza, Mark, Dagher, Hayat
Publicado em 2001

Alport Retinopathy Results from “Severe” COL4A5 Mutations and Predicts Early Renal Failure

Por Tan, Rachel, Colville, Deb, Wang, Yan Yan, Rigby, Lin, Savige, Judy
Publicado em 2010

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Por Storey, Helen, Savige, Judy, Sivakumar, Vanessa, Abbs, Stephen, Flinter, Frances A.
Publicado em 2013

Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance

Por Savige, Judy, Sheth, Shivanand, Leys, Anita, Nicholson, Anjali, Mack, Heather G., Colville, Deb
Publicado no Clin J Am Soc Nephrol (2015)

Mapping structural landmarks, ligand binding sites and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions and variation in ph...

Por Des Parkin, J., San Antonio, James D., Pedchenko, Vadim, Hudson, Billy, Jensen, Shane T., Savige, Judy
Publicado no Hum Mutat (2011)

Alport Syndrome in Women and Girls

Por Savige, Judy, Colville, Deb, Rheault, Michelle, Gear, Susie, Lennon, Rachel, Lagas, Sharon, Finlay, Moira, Flinter, Frances
Publicado no Clin J Am Soc Nephrol (2016)

The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mut...

Por Wang, Dongmao, Mohammad, Mardhiah, Wang, Yanyan, Tan, Rachel, Murray, Lydia S., Ricardo, Sharon, Dagher, Hayat, van Agtmael, Tom, Savige, Judy
Publicado no Kidney Int Rep (2017)

The collαgen III fibril has a “flexi-rod” structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles

Por Parkin, J. Des, San Antonio, James D., Persikov, Anton V., Dagher, Hayat, Dalgleish, Raymond, Jensen, Shane T., Jeunemaitre, Xavier, Savige, Judy
Publicado no PLoS One (2017)

Retinal Basement Membrane Abnormalities and the Retinopathy of Alport Syndrome

Por Savige, Judy, Liu, John, DeBuc, Delia Cabrera, Handa, James T., Hageman, Gregory S., Wang, Yan Yan, Parkin, John D., Vote, Brendan, Fassett, Rob, Sarks, Shirley, Colville, Deb
Publicado em 2010

The Microvasculature in Chronic Kidney Disease

Por Ooi, Qi Lun, Tow, Foong Kien Newk-Fon Hey, Deva, Raj, Alias, Mohamad Afzal, Kawasaki, Ryo, Wong, Tien Y., Mohamad, Nor, Colville, Deb, Hutchinson, Anastasia, Savige, Judy
Publicado em 2011

<it>NPHS2 </it>variation in focal and segmental glomerulosclerosis

Por Savige Judy, Jerums George, Kaplan Bernard S, Al-Waheeb Salah, Katz Avi, Falk Ronald J, Appel Gerald B, Uscinski Andrea, Polu Krishna, Needham Alexander, Tonna Stephen J, Harmon Jennifer, Zhang Kang, Curhan Gary C, Pollak Martin R
Publicado em 2008-09-01

NPHS2 variation in focal and segmental glomerulosclerosis

Por Tonna, Stephen J, Needham, Alexander, Polu, Krishna, Uscinski, Andrea, Appel, Gerald B, Falk, Ronald J, Katz, Avi, Al-Waheeb, Salah, Kaplan, Bernard S, Jerums, George, Savige, Judy, Harmon, Jennifer, Zhang, Kang, Curhan, Gary C, Pollak, Martin R
Publicado em 2008

Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syn...

Por Heath, Karen E., Campos-Barros, Angel, Toren, Amos, Rozenfeld-Granot, Galit, Carlsson, Lena E., Savige, Judy, Denison, Joyce C., Gregory, Martin C., White, James G., Barker, David F, Greinacher, Andreas, Epstein, Charles J., Glucksman, Marc J., Martignetti, John A.
Publicado em 2001

Stem cell therapy for Alport syndrome: the hope beyond the hype*

Por Gross, Oliver, Borza, Dorin-Bogdan, Anders, Hans-Joachim, Licht, Christoph, Weber, Manfred, Segerer, Stephan, Torra, Roser, Gubler, Marie-Claire, Heidet, Laurence, Harvey, Scott, Cosgrove, Dominic, Lees, George, Kashtan, Clifford, Gregory, Martin, Savige, Judy, Ding, Jie, Thorner, Paul, Abrahamson, Dale R., Antignac, Corinne, Tryggvason, Karl, Hudson, Billy, Miner, Jeffrey H.
Publicado em 2009

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

Por Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lüllmann-Rauch, Renate, Blanz, Judith, Zhang, Ke Wei, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, Bahlo, Melanie
Publicado em 2008