Publications by authors named "Paola Giunti"

101Publications

Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.

Authors:
Joana Afonso Ribeiro Sara Simeoni Lorenzo De Min Tomoyuki Uchiyama Yu Tung Lo Nita Solanky Hector Garcia-Moreno Paola Giunti Jalesh N Panicker

Ann Clin Transl Neurol 2020 Dec 18. Epub 2020 Dec 18.

Department of Uro-Neurology, The National Hospital for Neurology and Neurosurgery, and UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, United Kingdom.

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December 2020

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

Authors:
Mercedes Prudencio Hector Garcia-Moreno Karen R Jansen-West Rana Hanna Al-Shaikh Tania F Gendron Michael G Heckman Matthew R Spiegel Yari Carlomagno Lillian M Daughrity Yuping Song Judith A Dunmore Natalie Byron Björn Oskarsson Katharine A Nicholson Nathan P Staff Sorina Gorcenco Andreas Puschmann João Lemos Cristina Januário Mark S LeDoux Joseph H Friedman James Polke Robin Labrum Vikram Shakkottai Hayley S McLoughlin Henry L Paulson Takuya Konno Osamu Onodera Takeshi Ikeuchi Mari Tada Akiyoshi Kakita John D Fryer Christin Karremo Inês Gomes John N Caviness Mark R Pittelkow Jan Aasly Ronald F Pfeiffer Venka Veerappan Eric R Eggenberger William D Freeman Josephine F Huang Ryan J Uitti Klaas J Wierenga Iris V Marin Collazo Philip W Tipton Jay A van Gerpen Marka van Blitterswijk Guojun Bu Zbigniew K Wszolek Paola Giunti Leonard Petrucelli

Sci Transl Med 2020 Oct;12(566)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.

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October 2020

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).

Authors:
David R Lynch Melanie P Chin Martin B Delatycki S H Subramony Manuela Corti J Chad Hoyle Sylvia Boesch Wolfgang Nachbauer Caterina Mariotti Katherine D Mathews Paola Giunti George Wilmot Theresa Zesiewicz Susan Perlman Angie Goldsberry Megan O'Grady Colin J Meyer

Ann Neurol 2021 Feb 5;89(2):212-225. Epub 2020 Nov 5.

Reata Pharmaceuticals, Dallas, TX, USA.

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February 2021

Episodic Ataxias: Faux or Real?

Authors:
Paola Giunti Elide Mantuano Marina Frontali

Int J Mol Sci 2020 Sep 5;21(18). Epub 2020 Sep 5.

Laboratory of Neurogenetics, Institute of Translational Pharmacology, National Research Council of Italy, 00133 Rome, Italy.

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September 2020

Onset features and time to diagnosis in Friedreich's Ataxia.

Authors:
Elisabetta Indelicato Wolfgang Nachbauer Andreas Eigentler Matthias Amprosi Raffaella Matteucci Gothe Paola Giunti Caterina Mariotti Javier Arpa Alexandra Durr Thomas Klopstock Ludger Schöls Ilaria Giordano Katrin Bürk Massimo Pandolfo Claire Didszdun Jörg B Schulz Sylvia Boesch

Orphanet J Rare Dis 2020 08 3;15(1):198. Epub 2020 Aug 3.

Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

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August 2020

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.

Authors:
Carlo Wilke Eva Haas Kathrin Reetz Jennifer Faber Hector Garcia-Moreno Magda M Santana Bart van de Warrenburg Holger Hengel Manuela Lima Alessandro Filla Alexandra Durr Bela Melegh Marcella Masciullo Jon Infante Paola Giunti Manuela Neumann Jeroen de Vries Luis Pereira de Almeida Maria Rakowicz Heike Jacobi Rebecca Schüle Stephan A Kaeser Jens Kuhle Thomas Klockgether Ludger Schöls Christian Barro Jeannette Hübener-Schmid Matthis Synofzik

EMBO Mol Med 2020 07 8;12(7):e11803. Epub 2020 Jun 8.

Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.

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July 2020

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.

Authors:
Wai Yan Yau Mafalda Raposo Conceição Bettencourt Robyn Labrum João Vasconcelos Michael H Parkinson Paola Giunti Nicholas W Wood Manuela Lima Henry Houlden

Brain 2020 04;143(4):e25

Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK.

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April 2020

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

Authors:
Lucia V Schottlaender Rosella Abeti Zane Jaunmuktane Carol Macmillan Viorica Chelban Benjamin O'Callaghan John McKinley Reza Maroofian Stephanie Efthymiou Alkyoni Athanasiou-Fragkouli Raeburn Forbes Marc P M Soutar John H Livingston Bernardett Kalmar Orlando Swayne Gary Hotton Alan Pittman João Ricardo Mendes de Oliveira Maria de Grandis Angela Richard-Loendt Francesca Launchbury Juri Althonayan Gavin McDonnell Aisling Carr Suliman Khan Christian Beetz Atil Bisgin Sevcan Tug Bozdogan Amber Begtrup Erin Torti Linda Greensmith Paola Giunti Patrick J Morrison Sebastian Brandner Michel Aurrand-Lions Henry Houlden

Am J Hum Genet 2020 03;106(3):412-421

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory and Clinical Service, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. Electronic address:

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March 2020

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Authors:
Andrea Cortese Stefano Tozza Wai Yan Yau Salvatore Rossi Sarah J Beecroft Zane Jaunmuktane Zoe Dyer Gianina Ravenscroft Phillipa J Lamont Stuart Mossman Andrew Chancellor Thierry Maisonobe Yann Pereon Cecile Cauquil Silvia Colnaghi Giulia Mallucci Riccardo Curro Pedro J Tomaselli Gilbert Thomas-Black Roisin Sullivan Stephanie Efthymiou Alexander M Rossor Matilde Laurá Menelaos Pipis Alejandro Horga James Polke Diego Kaski Rita Horvath Patrick F Chinnery Wilson Marques Cristina Tassorelli Grazia Devigili Lea Leonardis Nick W Wood Adolfo Bronstein Paola Giunti Stephan Züchner Tanya Stojkovic Nigel Laing Richard H Roxburgh Henry Houlden Mary M Reilly

Brain 2020 02;143(2):480-490

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.

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February 2020

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA).

Authors:
Kathrin Reetz Ralf-Dieter Hilgers Susanne Isfort Marc Dohmen Claire Didszun Kathrin Fedosov Jennifer Kistermann Caterina Mariotti Alexandra Durr Sylvia Boesch Thomas Klopstock Francisco Javier Rodríguez de Rivera Garrido Ludger Schöls Thomas Klockgether Massimo Pandolfo Rudolf Korinthenberg Philip Lavin Geert Molenberghs Vincenzo Libri Paola Giunti Richard Festenstein Jörg B Schulz

Neurol Res Pract 2019 15;1:33. Epub 2019 Oct 15.

Department of Neurology, RWTH Aachen University, Pauwelsstraße 30, 52074 Aachen, Germany.

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October 2019

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Authors:
Alhassane Diallo Heike Jacobi Arron Cook Paola Giunti Michael H Parkinson Robyn Labrum Alexandra Durr Alexis Brice Perrine Charles Cecilia Marelli Caterina Mariotti Lorenzo Nanetti Marta Panzeri Anna Castaldo Maria Rakowicz Rafal Rola Anna Sulek Tanja Schmitz-Hübsch Ludger Schöls Holger Hengel Laszlo Baliko Bela Melegh Alessandro Filla Antonella Antenora Jon Infante José Berciano Bart P van de Warrenburg Dagmar Timmann Sylvia Boesch Wolfgang Nachbauer Massimo Pandolfo Jörg B Schulz Peter Bauer Kang Jun-Suk Thomas Klockgether Sophie Tezenas du Montcel

Mov Disord 2019 08 18;34(8):1220-1227. Epub 2019 Jun 18.

INSERM U 1136, Sorbonne Universités, Institut Pierre Louis d'Epidémiologie et de Santé Publique, IPLESP, Paris, France.

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August 2019

Peripapillary retinal nerve fibre layer thickness in Friedreich's ataxia: a biomarker for trials?

Authors:
Gilbert J Thomas-Black Micheal H Parkinson Fion Bremner Paola Giunti

Brain 2019 06;142(6):e23

UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS trust, London, UK.

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June 2019

Diagnosis and management of progressive ataxia in adults.

Authors:
Rajith Nilantha de Silva Julie Vallortigara Julie Greenfield Barry Hunt Paola Giunti Marios Hadjivassiliou

Pract Neurol 2019 Jun 2;19(3):196-207. Epub 2019 May 2.

Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, UK.

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June 2019

Toward earlier diagnosis and treatment of rare neurological disorders: the value of coordinated care and specialist centers.

Authors:
Paola Giunti Stephen Morris Maja Relja Gregory Pastores Vinciane Quoidbach

Croat Med J 2019 04;60(2):156-157

Vinciane Quoidbach, European Brain Council, Brussels, Belgium,

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April 2019

Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone.

Authors:
Arron Cook Sylvia Boesch Suzette Heck Ewout Brunt Thomas Klockgether Ludger Schöls Angela Schulz Paola Giunti

Acta Neurol Scand 2019 Jun 8;139(6):533-539. Epub 2019 Apr 8.

Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology, Queen Square, London, UK.

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June 2019

Guidelines on the diagnosis and management of the progressive ataxias.

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

Orphanet J Rare Dis 2019 02 20;14(1):51. Epub 2019 Feb 20.

Ataxia Centre, Department of Molecular Neurosciences, UCL Queen Sqaure Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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February 2019

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.

Authors:
David R Lynch Jennifer Farmer Lauren Hauser Ian A Blair Qing Qing Wang Clementina Mesaros Nathaniel Snyder Sylvia Boesch Melanie Chin Martin B Delatycki Paola Giunti Angela Goldsberry Chad Hoyle Michael G McBride Wolfgang Nachbauer Megan O'Grady Susan Perlman S H Subramony George R Wilmot Theresa Zesiewicz Colin Meyer

Ann Clin Transl Neurol 2019 01 10;6(1):15-26. Epub 2018 Nov 10.

Reata Pharmaceuticals 2801 Gateway Drive Suite 150 Irving Texas 75063.

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January 2019

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

Authors:
Flávio Moura Rezende Filho Michael H Parkinson José Luiz Pedroso Roy Poh Ingrid Faber Charles Marques Lourenço Wilson Marques Júnior Marcondes Cavalcante França Junior Fernando Kok Juliana M Ferraz Sallum Paola Giunti Orlando Graziani Póvoas Barsottini

Parkinsonism Relat Disord 2019 05 23;62:148-155. Epub 2018 Dec 23.

Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.

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May 2019

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Authors:
Suran Nethisinghe Wei N Lim Heather Ging Anna Zeitlberger Rosella Abeti Sally Pemble Mary G Sweeney Robyn Labrum Charisse Cervera Henry Houlden Elisabeth Rosser Patricia Limousin Angus Kennedy Michael P Lunn Kailash P Bhatia Nicholas W Wood John Hardy James M Polke Liana Veneziano Alfredo Brusco Mary B Davis Paola Giunti

Front Cell Neurosci 2018 23;12:429. Epub 2018 Nov 23.

Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.

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November 2018

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.

Authors:
Sahar Al-Mahdawi Heather Ging Aurelien Bayot Francesca Cavalcanti Valentina La Cognata Sebastiano Cavallaro Paola Giunti Mark A Pook

Front Cell Neurosci 2018 21;12:443. Epub 2018 Nov 21.

Ataxia Research Group, Division of Biosciences, Department of Life Sciences, College of Health and Life Sciences, Brunel University London, Uxbridge, United Kingdom.

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November 2018