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1

Autosomal dominant tubulointerstitial kidney disease

Devuyst, Olivier, Olinger, Eric, Weber, Stefanie, Eckardt, Kai-Uwe, Kmoch, Stanislav, Rampoldi, Luca, Bleyer, Anthony J.

Journal:

Nature Reviews Disease Primers

Year:

2019

Language:

english

File:

PDF, 9.57 MB

english, 2019

2

Clinical features and molecular bases of neuroacanthocytosis

Luca Rampoldi, Adrian Danek, Anthony P. Monaco

Journal:

Journal of Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 198 KB

english, 2002

3

Neuroacanthocytosis: new developments in a neglected group of dementing disorders

Adrian Danek, Hans H. Jung, Mariarosa A.B. Melone, Luca Rampoldi, Vania Broccoli, Ruth H. Walker

Journal:

Journal of the Neurological Sciences

Year:

2005

Language:

english

File:

PDF, 723 KB

english, 2005

4

McLeod neuroacanthocytosis: Genotype and phenotype

Adrian Danek, Justin P. Rubio, Luca Rampoldi, Mengfatt Ho, Carol Dobson-Stone, François Tison, William A. Symmans, Matthias Oechsner, Wolfgang Kalckreuth, Julie M. Watt, Alastair J. Corbett, Hisham H.

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 315 KB

english, 2001

5

Transarterial oily chemoembolization for the treatment of hepatocellular carcinoma: A multivariate analysis of prognostic factors

Luca Mondazzi, Riccardo Bottelli, Giorgio Brambilla, Antonio Rampoldi, Indira Rezakovic, Claudio Zavaglia, Alberto Alberti, Professor Gaetano Idèo

Journal:

Year:

1994

Language:

english

File:

PDF, 959 KB

english, 1994

6

Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula

Saeed Bohlega, Adel Al-Jishi, Carol Dobson-Stone, Luca Rampoldi, Parthasarathi Saha, Hatem Murad, Abid Kareem, George Roberts, Anthony P. Monaco

Journal:

Movement Disorders

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

7

Second International Neuroacanthocytosis Symposium: Expanding the spectrum of choreatic syndromes: Montreal Neurological Hospital and Institute, April 17–19

Eva Andermann, Adrian Danek, Glenn Irvine, Hans H. Jung, Luca Rampoldi, François Tison, Ruth H. Walker

Journal:

Movement Disorders

Year:

2005

Language:

english

File:

PDF, 119 KB

english, 2005

8

Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes

Ruth H. Walker, Adrian Danek, Carol Dobson-Stone, Renzo Guerrini, Hans H. Jung, Anne-Louise Lafontaine, Luca Rampoldi, François Tison, Eva Andermann

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 172 KB

english, 2006

9

The role of spontaneous portosystemic shunts in the course of orthotopic liver transplantation

Luciano Carlis, Ernesto Favero, Gianfranco Rondinara, Luca S. Belli, Cosimo V. Sansalone, Bruno Zani, Alberto Cazzulani, Giorgio Brambilla, Antonio Rampoldi, Lino Belli

Journal:

Transplant International

Year:

1992

Language:

english

File:

PDF, 1.55 MB

english, 1992

10

Defective Intracellular Trafficking of Uromodulin Mutant Isoforms

Ilenia Bernascone, Stefano Vavassori, Alessio Di Pentima, Sara Santambrogio, Giuseppe Lamorte, Antonio Amoroso, Francesco Scolari, Gian Marco Ghiggeri, Giorgio Casari, Roman Polishchuk, Luca Rampoldi

Journal:

Year:

2006

Language:

english

File:

PDF, 1.03 MB

english, 2006

11

10.1038/88821

Rampoldi, Luca, Dobson-Stone, Carol, Rubio, Justin P., Danek, Adrian, Chalmers, Richard M., Wood, Nicholas W., Verellen, Christine, Ferrer, Xavier, Malandrini, Alessandro, Fabrizi, Gian M., Brown, Rob

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 199 KB

english, 2001

12

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2

Fusco, Maurizio De, Marconi, Roberto, Silvestri, Laura, Atorino, Luigia, Rampoldi, Luca, Morgante, Letterio, Ballabio, Andrea, Aridon, Paolo, Casari, Giorgio

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 430 KB

english, 2003

13

The rediscovery of uromodulin (Tamm–Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease

Rampoldi, Luca, Scolari, Francesco, Amoroso, Antonio, Ghiggeri, GianMarco, Devuyst, Olivier

Journal:

Kidney International

Year:

2011

Language:

english

File:

PDF, 367 KB

english, 2011

14

Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms

Giovanni Gambaro, Giuseppe Vezzoli, Giorgio Casari, Luca Rampoldi, Angela D’Angelo, Loris Borghi

Journal:

American Journal of Kidney Diseases

Year:

2004

Language:

english

File:

PDF, 253 KB

english, 2004

15

Uromodulin storage diseases: Clinical aspects and mechanisms

Francesco Scolari, Gianluca Caridi, Luca Rampoldi, Regina Tardanico, Claudia Izzi, Doroti Pirulli, Antonio Amoroso, Giorgio Casari, Gian Marco Ghiggeri

Journal:

American Journal of Kidney Diseases

Year:

2004

Language:

english

File:

PDF, 313 KB

english, 2004

16

Immature Renal Structures Associated With a Novel UMOD Sequence Variant

Elisa Benetti, Gianluca Caridi, Manuela Della Vella, Luca Rampoldi, Gian Marco Ghiggeri, Lina Artifoni, Luisa Murer

Journal:

American Journal of Kidney Diseases

Year:

2009

Language:

english

File:

PDF, 393 KB

english, 2009

17

The role of spontaneous portosystemic shunts in the course of orthotopic liver transplantation

Luciano De Carlis, Ernesto Del Favero, Gianfranco Rondinara, Luca S. Belli, Cosimo V. Sansalone, Bruno Zani, Alberto Cazzulani, Giorgio Brambilla, Antonio Rampoldi, Lino Belli

Journal:

Transplant International

Year:

1992

Language:

english

File:

PDF, 789 KB

english, 1992

18

Fine Mapping of Five Human Skeletal Muscle Genes: Alpha-Tropomyosin, Beta-Tropomyosin, Troponin-I Slow-Twitch, Troponin-I Fast-Twitch, and Troponin-C Fast

Natascia Tiso, Luca Rampoldi, Alberto Pallavicini, Rosanna Zimbello, Davide Pandolfo, Giorgio Valle, Gerolamo Lanfranchi, Gian Antonio Danieli

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 116 KB

english, 1997

19

Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage

Sara Santambrogio, Angela Cattaneo, Ilenia Bernascone, Thomas Schwend, Luca Jovine, Angela Bachi, Luca Rampoldi

Journal:

Biochemical and Biophysical Research Communications

Year:

2008

Language:

english

File:

PDF, 822 KB

english, 2008

20

Endoscopic Disinfection: Comparison Between Electrolyzed Acid Water and 2% Glutaraldehyde

Giancarlo Spinzi, Alessandro Rampoldi, Luca Ferlin, Riccardo Terramocci, Giancarlo Butti, Giorgio Minoli

Journal:

Gastrointestinal Endoscopy

Year:

2004

Language:

english

File:

PDF, 93 KB

english, 2004

21

Endoscopic disinfection: comparison between electrolyzed acid water and 2% glutaraldehyde. an interim report

Giancarlo Spinzi, Alessandro Rampoldi, Luca Ferlin, Riccardo Terramocci, Giancarlo Butti, Giorgio Minoli

Journal:

American Journal of Gastroenterology

Year:

2003

Language:

english

File:

PDF, 24 KB

english, 2003

22

Different Molecular Consequences of Frameshift Mutations in the ANTXR2 Gene

Journal:

Year:

2013

Language:

english

File:

PDF, 79 KB

english, 2013

23

Renal Artery Stenosis as the Cause of Resistant Arterial Hypertension: An Unusual Technique for Revascularization

De Biase, Anna, Varrenti, Marisa, Meani, Paolo, Cesana, Francesca, Pirola, Roberto, Giupponi, Luca, Alloni, Marta, Vallerio, Paola, Moreo, Antonella, Rampoldi, Antonio, Giannattasio, Cristina

Journal:

Journal of Clinical Hypertension

Year:

2014

Language:

english

File:

PDF, 207 KB

english, 2014

24

The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia

Izzi, Claudia, Dallera, Nadia, Manenti, Chiara, Caridi, Gianluca, Ghiggeri, GianMarco, Rampoldi, Luca, Scolari, Francesco

Journal:

Kidney International

Year:

2014

Language:

english

File:

PDF, 251 KB

english, 2014

25

Endoscopic disinfection: comparison between electrolyzed acid water and 2% glutaraldehyde. an interim report

Spinzi, Giancarlo, Rampoldi, Alessandro, Ferlin, Luca, Terramocci, Riccardo, Butti, Giancarlo, Minoli, Giorgio

Journal:

American Journal of Gastroenterology

Year:

2003

Language:

english

File:

PDF, 24 KB

english, 2003

26

The effect of common uromodulin variants on urinary protein level and gene transcription

Rampoldi, Luca, Köttgen, Anna, Devuyst, Olivier

Journal:

Kidney International

Year:

2013

Language:

english

File:

PDF, 582 KB

english, 2013

27

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

Eckardt, Kai-Uwe, Alper, Seth L, Antignac, Corinne, Bleyer, Anthony J, Chauveau, Dominique, Dahan, Karin, Deltas, Constantinos, Hosking, Andrew, Kmoch, Stanislav, Rampoldi, Luca, Wiesener, Michael, Wo

Journal:

Kidney International

Year:

2015

Language:

english

File:

PDF, 154 KB

english, 2015

28

A structured interdomain linker directs self-polymerization of human uromodulin

Bokhove, Marcel, Nishimura, Kaoru, Brunati, Martina, Han, Ling, de Sanctis, Daniele, Rampoldi, Luca, Jovine, Luca

Journal:

Proceedings of the National Academy of Sciences

Year:

2016

Language:

english

File:

PDF, 1.99 MB

english, 2016

29

Is percutaneous radiofrequency thermal ablation of hepatocellular carcinoma a safe procedure?

Zavaglia, Claudio, Corso, Rocco, Rampoldi, Antonio, Vinci, Maria, Belli, Luca Saverio, Vangeli, Marcello, Solcia, Marco, Castoldi, Chiara, Prisco, Cleofe, Vanzulli, Angelo, Pinzello, Giovambattista

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2008

Language:

english

File:

PDF, 99 KB

english, 2008

30

Influence of Acute Inflammation on Iron and Nutritional Status Indexes in Older Inpatients

Chiari, Maria Maddalena, Bagnoli, Roberto, De Luca, Paolo, Monti, Massimo, Rampoldi, Erica, Cunietti, Ettore

Journal:

Journal of the American Geriatrics Society

Year:

1995

Language:

english

File:

PDF, 507 KB

english, 1995

31

Direct Transaortic TEVAR: An Alternative Option for Selected Patients With Unsuitable Peripheral Access

Botta, Luca, Bruschi, Giuseppe, Fratto, Pasquale, Margari, Vito, Solcia, Marco, Borgia, Francesco, Rampoldi, Antonio, Russo, Claudio Francesco

Journal:

The Annals of Thoracic Surgery

Year:

2016

Language:

english

File:

PDF, 591 KB

english, 2016

32

Uromodulin: from physiology to rare and complex kidney disorders

Devuyst, Olivier, Olinger, Eric, Rampoldi, Luca

Journal:

Nature Reviews Nephrology (formerly Nature Clinical Practice Nephrology)

Year:

2017

Language:

english

File:

PDF, 2.61 MB

english, 2017

33

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

Trudu, Matteo, Schaeffer, Celine, Riba, Michela, Ikehata, Masami, Brambilla, Paola, Messa, Piergiorgio, Martinelli-Boneschi, Filippo, Rastaldi, Maria Pia, Rampoldi, Luca

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 6.48 MB

english, 2017

34

A Comprehensive, High-Resolution Genomic Transcript Map of Human Skeletal Muscle

Bortoluzzi, Stefania, Rampoldi, Luca, Simionati, Barbara, Zimbello, Rosanna, Barbon, Alessandro, d’Alessi, Fabio, Tiso, Natascia, Pallavicini, Alberto, Toppo, Stefano, Cannata, Nicola, Valle, Giorgio,

Journal:

Genome Research

Year:

1998

Language:

english

File:

PDF, 406 KB

english, 1998

35

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response

Schaeffer, Céline, Merella, Stefania, Pasqualetto, Elena, Lazarevic, Dejan, Rampoldi, Luca, Pizzo, Salvatore V.

Journal:

Year:

2017

Language:

english

File:

PDF, 10.75 MB

english, 2017

36

Linear Viscoelastic Properties of Selected Polysaccharide Gums as Function of Concentration, pH, and Temperature

Fagioli, Laura, Pavoni, Lucia, Logrippo, Serena, Pelucchini, Caroline, Rampoldi, Luca, Cespi, Marco, Bonacucina, Giulia, Casettari, Luca

Journal:

Journal of Food Science

Year:

2018

Language:

english

File:

PDF, 1.52 MB

english, 2018

37

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi,

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 3.40 MB

english, 2019

38

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi,

Journal:

Scientific Reports

Year:

2019

File:

PDF, 3.40 MB

2019

39

SAT-028-Diabetes is associated with TIPS failure in cirrhotic patients with refractory ascites

Nicola, Stella De, Airoldi, Aldo, Perricone, Giovanni, Vangeli, Marcello, Viganò, Raffaella, Solcia, Marco, Barbosa, Fabiane, Vercelli, Ruggero, Migliorisi, Carmelo, Rampoldi, Antonio, Belli, Luca Sav

Journal:

Journal of Hepatology

Year:

2019

Language:

english

File:

PDF, 56 KB

english, 2019

40

SAT-028-Diabetes is associated with TIPS failure in cirrhotic patients with refractory ascites

Nicola, Stella De, Airoldi, Aldo, Perricone, Giovanni, Vangeli, Marcello, Viganò, Raffaella, Solcia, Marco, Barbosa, Fabiane, Vercelli, Ruggero, Migliorisi, Carmelo, Rampoldi, Antonio, Belli, Luca Sav

Journal:

Journal of Hepatology

Year:

2019

File:

PDF, 56 KB

2019

41

Peptidomic Analysis of Urine from Youths with Early Type 1 Diabetes Reveals Novel Bioactivity of Uromodulin Peptides In Vitro

Van, Julie A. D., Clotet-Freixas, Sergi, Zhou, Joyce, Batruch, Ihor, Sun, Chunxiang, Glogauer, Michael, Rampoldi, Luca, Elia, Yesmino, Mahmud, Farid H., Sochett, Etienne, Diamandis, Eleftherios P., Sc

Journal:

Molecular & Cellular Proteomics

Year:

2020

File:

PDF, 3.69 MB

2020

42

Variable Expressivity of HNF1B-Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney through Tubulo-Interstitial Kidney Disease.

IZZI, Claudia, DORDONI, Chiara, ECONIMO, Laura, DELBARBA, Elisa, Romana GRATI, Francesca, MARTIN, Eva, MAZZA, Cinzia, SAVOLDI, Gianfranco, RAMPOLDI, Luca, ALBERICI, Federico, SCOLARI, Francesco

Journal:

Kidney International Reports

Year:

2020

File:

PDF, 14.92 MB

2020