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1

Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients

Tanja Schmitz-Hübsch, Sophie Tezenas du Montcel, Laszlo Baliko, Sylvia Boesch, Sara Bonato, Roberto Fancellu, Paola Giunti, Christoph Globas, Jun-Suk Kang, Berry Kremer, Caterina Mariotti, Bela Melegh

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 104 KB

english, 2006

2

Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany

Paola Giunti, Julia Greenfield, Alison J Stevenson…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 233 KB

english, 2013

3

Emotional profile of female rats showing binge eating behavior

Satta, Valentina, Scherma, Maria, Giunti, Elisa, Collu, Roberto, Fattore, Liana, Fratta, Walter, Fadda, Paola

Journal:

Physiology & Behavior

Year:

2016

Language:

english

File:

PDF, 992 KB

english, 2016

4

A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7

Moriarty, Amy, Cook, Arron, Hunt, Helen, Adams, Matthew E., Cipolotti, Lisa, Giunti, Paola

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 794 KB

english, 2016

5

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset

Wiethoff, Sarah, O’Connor, Emer, Haridy, Nourelhoda A, Nethisinghe, Suran, Wood, Nicholas, Giunti, Paola, Bettencourt, Conceição, Houlden, Henry

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2018

Language:

english

File:

PDF, 254 KB

english, 2018

6

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia

Lad, Meher, Parkinson, Michael H., Rai, Myriam, Pandolfo, Massimo, Bogdanova-Mihaylova, Petya, Walsh, Richard A., Murphy, Sinéad, Emmanuel, Anton, Panicker, Jalesh, Giunti, Paola

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 404 KB

english, 2017

7

Xeroderma Pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms

Abeti, Rosella, Zeitberger, Anna, Peelo, Colm, Fassihi, Hiva, Sarkany, Robert P E, Lehmann, Alan R, Giunti, Paola

Journal:

British Journal of Pharmacology

Year:

2018

Language:

english

File:

PDF, 461 KB

english, 2018

8

Guidelines on the diagnosis and management of the progressive ataxias

de Silva, Rajith, Greenfield, Julie, Cook, Arron, Bonney, Harriet, Vallortigara, Julie, Hunt, Barry, Giunti, Paola

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 613 KB

english, 2019

9

Onset features and time to diagnosis in Friedreichâs Ataxia

Indelicato, Elisabetta, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Matteucci Gothe, Raffaella, Giunti, Paola, Mariotti, Caterina, Arpa, Javier, Durr, Alexandra, Klopstock, Thomas, Sch

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 554 KB

2020

10

Cis-acting factors promoting the CAG intergenerational instability in Machado–Joseph disease

Sandra Martins, Paula Coutinho, Isabel Silveira, Paola Giunti, Laura B. Jardim, Francesc Calafell, Jorge Sequeiros, António Amorim

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2008

Language:

english

File:

PDF, 127 KB

english, 2008

11

Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

Olaf Ansorge, Paola Giunti, Andrej Michalik, Christine Van Broeckhoven, Brian Harding, Nicholas Wood, Francesco Scaravilli

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 212 KB

english, 2004

12

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)

Naheed L. Khan, Paola Giunti, Mary G. Sweeney, Christoph Scherfler, Michael O. Brien, Paola Piccini, Nicholas W. Wood, Andrew J. Lees

Journal:

Movement Disorders

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

13

Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6

James T.H. Teo, Susanne A. Schneider, Binith J. Cheeran, Miguel Fernandez-del-Olmo, Paola Giunti, John C. Rothwell, Kailash P. Bhatia

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 220 KB

english, 2008

14

Self-rated health status in spinocerebellar ataxia—Results from a European multicenter study

Tanja Schmitz-Hübsch, Mathieu Coudert, Paola Giunti, Christoph Globas, Laszlo Baliko, Roberto Fancellu, Caterina Mariotti, Alessandro Filla, Maryla Rakowicz, Perrine Charles, Pascale Ribai, Sandra Szy

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

15

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Joyce van de Leemput, Fabienne Wavrant-De Vrièze, Ian Rafferty, Jose M. Bras, Paola Giunti, Elizabeth MC Fisher, John A. Hardy, Andrew B. Singleton, Henry Houlden

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 1.16 MB

english, 2010

16

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

Marianne J.U. Novak, Mary G. Sweeney, Abi Li, Colm Treacy, Hoskote S. Chandrashekar, Paola Giunti, Robert G. Goold, Mary B. Davis, Henry Houlden, Sarah J. Tabrizi

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 256 KB

english, 2010

17

Movement disorders in spinocerebellar ataxias

Judith van Gaalen, Paola Giunti, Bart P. van de Warrenburg

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 127 KB

english, 2011

18

Depression comorbidity in spinocerebellar ataxia

Tanja Schmitz-Hübsch, Mathieu Coudert, Sophie Tezenas du Montcel, Paola Giunti, Robyn Labrum, Alexandra Dürr, Pascale Ribai, Perrine Charles, Christoph Linnemann, Ludger Schöls, Maryla Rakowicz, Rafal

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 123 KB

english, 2011

19

A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

Maria Spadaro, Simona Ursu, Frank Lehmann-Horn, Veneziano Liana, Antonini Giovanni, Giunti Paola, Marina Frontali, Karin Jurkat-Rott

Journal:

Year:

2004

Language:

english

File:

PDF, 421 KB

english, 2004

20

A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

Maria Spadaro, Simona Ursu, Frank Lehmann-Horn, Liana Veneziano, Giovanni Antonini, Paola Giunti, Marina Frontali, Karin Jurkat-Rott

Journal:

Year:

2005

Language:

english

File:

PDF, 43 KB

english, 2005

21

Clinical and genetic analysis of spinocerebellar ataxia type 11

Janel Johnson, Nicholas Wood, Paola Giunti, Henry Houlden

Journal:

Year:

2008

Language:

english

File:

PDF, 226 KB

english, 2008

22

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

Antoni Matilla-Dueñas, Robert Goold, Paola Giunti

Journal:

Year:

2008

Language:

english

File:

PDF, 569 KB

english, 2008

23

Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study

Ella M. R. Fonteyn, Tanja Schmitz-Hübsch, Carla C. Verstappen, Laslo Baliko, Bastiaan R. Bloem, Silvia Boesch, Lisa Bunn, Perrine Charles, Alexandra Dürr, Allesandro Filla, Paola Giunti, Christoph Glo

Journal:

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

24

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

Worth, Paul F., Houlden, Henry, Giunti, Paola, Davis, Mary B., Wood, Nicholas W.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 116 KB

english, 2000

25

Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings

Heike Jacobi, Till-Karsten Hauser, Paola Giunti, Christoph Globas, Peter Bauer, Tanja Schmitz-Hübsch, László Baliko, Alessandro Filla, Caterina Mariotti, Maria Rakowicz, Perine Charles, Pascale Ribai,

Journal:

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

26

Restricted immune responses lead to CNS demyelination and axonal damage

Gianluigi Mancardi, Bert A ‘t Hart, Elisabetta Capello, Herbert P.M Brok, Avraham Ben-Nun, Luca Roccatagliata, Debora Giunti, Paola Gazzola, Mariella Dono, Nicole Kerlero de Rosbo, Monica Colombo, Ant

Journal:

Journal of Neuroimmunology

Year:

2000

Language:

english

File:

PDF, 1.08 MB

english, 2000

27

Permeability of Liver Microsomal Membranes to Glucose

Paola Marcolongo, Rosella Fulceri, Roberta Giunti, Ann Burchell, Angelo Benedetti

Journal:

Biochemical and Biophysical Research Communications

Year:

1996

Language:

english

File:

PDF, 62 KB

english, 1996

28

Expression of hexose-6-phosphate dehydrogenase in rat tissues

Paola Marcolongo, Silvia Senesi, Roberta Giunti, Miklós Csala, Rosella Fulceri, Gábor Bánhegyi, Angelo Benedetti

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Year:

2011

Language:

english

File:

PDF, 992 KB

english, 2011

29

Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion

Gilles David, Nacer Abbas, Giovanni Stevanin, Alexandra Durr, Gael Yvert, Geraldine Cancel, Chantal Weber, Georges Imbert, Frederic Saudou, Eric Antoniou, Harry Drabkin, Robert Gemmill, Paola Giunti,

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

30

Expression of hexose-6-phosphate dehydrogenase in rat tissues

Paola Marcolongo, Silvia Senesi, Roberta Giunti, Miklos Csala, Rosella Fulceri, Angiolo Benedetti, Gabor Banhegyi

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 54 KB

english, 2011

31

The glucose-6-phosphate transport is not mediated by a glucose-6-phosphate/phosphate exchange in liver microsomes

Paola Marcolongo, Rosella Fulceri, Roberta Giunti, Eva Margittai, Gabor Banhegyi, Angelo Benedetti

Journal:

Year:

2012

Language:

english

File:

PDF, 576 KB

english, 2012

32

Deciphering the impact of cerebellar and basal ganglia dysfunction in accuracy and variability of motor timing

Claassen, Daniel O., Jones, Catherine R.G., Yu, Minhong, Dirnberger, Georg, Malone, Tim, Parkinson, Michael, Giunti, Paola, Kubovy, Michael, Jahanshahi, Marjan

Journal:

Neuropsychologia

Year:

2013

Language:

english

File:

PDF, 726 KB

english, 2013

33

Inhibition of LRRK2 kinase activity stimulates macroautophagy

Manzoni, Claudia, Mamais, Adamantios, Dihanich, Sybille, Abeti, Rosella, Soutar, Marc P.M., Plun-Favreau, Helene, Giunti, Paola, Tooze, Sharon A., Bandopadhyay, Rina, Lewis, Patrick A.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2013

Language:

english

File:

PDF, 3.12 MB

english, 2013

34

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions

Fratta, Pietro, Collins, Toby, Pemble, Sally, Nethisinghe, Suran, Devoy, Anny, Giunti, Paola, Sweeney, Mary G., Hanna, Michael G., Fisher, Elizabeth M.C.

Journal:

Neurobiology of Aging

Year:

2014

Language:

english

File:

PDF, 164 KB

english, 2014

35

A Novel De Novo Mutation of theTITF1/NKX2-1Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

Veneziano, Liana, Parkinson, Michael H., Mantuano, Elide, Frontali, Marina, Bhatia, Kailash P., Giunti, Paola

Journal:

Year:

2014

Language:

english

File:

PDF, 549 KB

english, 2014

36

Diagnosis and treatment of Friedreich ataxia: a European perspective

Schulz, Jörg B., Boesch, Sylvia, Bürk, Katrin, Dürr, Alexandra, Giunti, Paola, Mariotti, Caterina, Pousset, Francoise, Schöls, Ludger, Vankan, Pierre, Pandolfo, Massimo

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2009

Language:

english

File:

PDF, 879 KB

english, 2009

37

Co-enzyme Q 10 and idebenone use in Friedreich's ataxia

Parkinson, Michael H, Schulz, Jörg B., Giunti, Paola

Journal:

Journal of Neurochemistry

Year:

2013

Language:

english

File:

PDF, 249 KB

english, 2013

38

Low levels of glucose-6-phosphate hydrolysis in the sarcoplasmic reticulum of skeletal muscle

Gamberucci, Alessandra, Marcolongo, Paola, Fulceri, Rosella, Giunti, Roberta, Watkins, Sharlene L., Waddell, Ian D., Burchell, Ann, Benedetti, Angelo

Journal:

Molecular Membrame Biology

Year:

1996

Language:

english

File:

PDF, 690 KB

english, 1996

39

Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Nethisinghe, Suran, Clayton, Lisa, Vermeer, Sascha, Chapple, J. Paul, Reilly, Mary, Bremner, Fion, Giunti, Paola

Journal:

Neuro-Ophthalmology

Year:

2011

Language:

english

File:

PDF, 837 KB

english, 2011

40

Clinical features of Friedreich's ataxia: classical and atypical phenotypes

Parkinson, Michael H., Boesch, Sylvia, Nachbauer, Wolfgang, Mariotti, Caterina, Giunti, Paola

Journal:

Journal of Neurochemistry

Year:

2013

Language:

english

File:

PDF, 179 KB

english, 2013

41

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Reetz, Kathrin, Dogan, Imis, Costa, Ana S, Dafotakis, Manuel, Fedosov, Kathrin, Giunti, Paola, Parkinson, Michael H, Sweeney, Mary G, Mariotti, Caterina, Panzeri, Marta, Nanetti, Lorenzo, Arpa, Javier

Journal:

The Lancet Neurology

Year:

2015

Language:

english

File:

PDF, 434 KB

english, 2015

42

The Role of Interruptions in polyQ in the Pathology of SCA1

Menon, Rajesh P., Nethisinghe, Suran, Faggiano, Serena, Vannocci, Tommaso, Rezaei, Human, Pemble, Sally, Sweeney, Mary G., Wood, Nicholas W., Davis, Mary B., Pastore, Annalisa, Giunti, Paola, Pearson,

Journal:

Year:

2013

Language:

english

File:

PDF, 1.07 MB

english, 2013

43

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia

Abeti, Rosella, Uzun, Ebru, Renganathan, Indhushri, Honda, Tadashi, Pook, Mark A., Giunti, Paola

Journal:

Pharmacological Research

Year:

2015

Language:

english

File:

PDF, 966 KB

english, 2015

44

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Jacobi, Heike, du Montcel, Sophie Tezenas, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti,

Journal:

The Lancet Neurology

Year:

2015

Language:

english

File:

PDF, 391 KB

english, 2015

45

Contribution of Fructose-6-Phosphate to Glucocorticoid Activation in the Endoplasmic Reticulum: Possible Implication in the Metabolic Syndrome

Senesi, Silvia, Legeza, Balázs, Balázs, Zoltán, Csala, Miklós, Marcolongo, Paola, Kereszturi, Éva, Szelényi, Péter, Egger, Christine, Fulceri, Rosella, Mandl, József, Giunti, Roberta, Odermatt, Alex,

Journal:

Year:

2010

Language:

english

File:

PDF, 357 KB

english, 2010

46

Centres of excellence for the care of people with progressive ataxias

Greenfield, Julie, Treacy, Colm, Giunti, Paola

Journal:

British Journal of Nursing

Year:

2006

Language:

english

File:

PDF, 102 KB

english, 2006

47

Lack of evidence for the 1484insG variant at the 3'-UTR of the protein tyrosine phosphatase 1B (PTP1B) gene as a genetic determinant of diabetic nephropathy development in type 1 diabetic patients

De Cosmo, S., Marucci, A., Ciociola, E., Di Paola, R., Pucci, L., Penno, G., Del Prato, S., Piras, G. P., Trevisan, R., Giunti, S., Viberti, G. C., Trischitta, V.

Journal:

Nephrology Dialysis Transplantation

Year:

2004

Language:

english

File:

PDF, 61 KB

english, 2004

48

Understanding the Role of Mitochondrial Pathophysiology in Friedreich's Ataxia

Abeti, Rosella, Parkinson, Michael H., Hargreaves, Iain P., Pook, Mark A., Abramov, Andrey Y., Giunti, Paola

Journal:

Biophysical Journal

Year:

2016

Language:

english

File:

PDF, 42 KB

english, 2016

49

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

Provenzano, Claudia, Zamboni, Michela, Veneziano, Liana, Mantuano, Elide, Garavaglia, Barbara, Zorzi, Giovanna, Pagonabarraga, Javier, Giunti, Paola, Civitareale, Donato

Journal:

Journal of the Neurological Sciences

Year:

2016

Language:

english

File:

PDF, 551 KB

english, 2016

50

Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala

Martins, Sandra, Soong, Bing-Wen, Wong, Virginia C. N., Giunti, Paola, Stevanin, Giovanni, Ranum, Laura P. W., Sasaki, Hidenao, Riess, Olaf, Tsuji, Shoji, Coutinho, Paula, Amorim, António, Sequeiros,

Journal:

Archives of Neurology

Year:

2012

Language:

english

File:

PDF, 100 KB

english, 2012