Publications by authors named "Nourelhoda A Haridy"

8Publications

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Authors:
Andrea Cortese Yi Zhu Adriana P Rebelo Sara Negri Steve Courel Lisa Abreu Chelsea J Bacon Yunhong Bai Dana M Bis-Brewer Enrico Bugiardini Elena Buglo Matt C Danzi Shawna M E Feely Alkyoni Athanasiou-Fragkouli Nourelhoda A Haridy Rosario Isasi Alaa Khan Matilde Laurà Stefania Magri Menelaos Pipis Chiara Pisciotta Eric Powell Alexander M Rossor Paola Saveri Janet E Sowden Stefano Tozza Jana Vandrovcova Julia Dallman Elena Grignani Enrico Marchioni Steven S Scherer Beisha Tang Zhiqiang Lin Abdullah Al-Ajmi Rebecca Schüle Matthis Synofzik Thierry Maisonobe Tanya Stojkovic Michaela Auer-Grumbach Mohamed A Abdelhamed Sherifa A Hamed Ruxu Zhang Fiore Manganelli Lucio Santoro Franco Taroni Davide Pareyson Henry Houlden David N Herrmann Mary M Reilly Michael E Shy R Grace Zhai Stephan Zuchner

Nat Genet 2020 06;52(6):640

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

View Article and Find Full Text PDF
June 2020

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Authors:
Andrea Cortese Yi Zhu Adriana P Rebelo Sara Negri Steve Courel Lisa Abreu Chelsea J Bacon Yunhong Bai Dana M Bis-Brewer Enrico Bugiardini Elena Buglo Matt C Danzi Shawna M E Feely Alkyoni Athanasiou-Fragkouli Nourelhoda A Haridy Rosario Isasi Alaa Khan Matilde Laurà Stefania Magri Menelaos Pipis Chiara Pisciotta Eric Powell Alexander M Rossor Paola Saveri Janet E Sowden Stefano Tozza Jana Vandrovcova Julia Dallman Elena Grignani Enrico Marchioni Steven S Scherer Beisha Tang Zhiqiang Lin Abdullah Al-Ajmi Rebecca Schüle Matthis Synofzik Thierry Maisonobe Tanya Stojkovic Michaela Auer-Grumbach Mohamed A Abdelhamed Sherifa A Hamed Ruxu Zhang Fiore Manganelli Lucio Santoro Franco Taroni Davide Pareyson Henry Houlden David N Herrmann Mary M Reilly Michael E Shy R Grace Zhai Stephan Zuchner

Nat Genet 2020 05 4;52(5):473-481. Epub 2020 May 4.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

View Article and Find Full Text PDF
May 2020

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Authors:
Viorica Chelban Matthew P Wilson Jodi Warman Chardon Jana Vandrovcova M Natalia Zanetti Eleni Zamba-Papanicolaou Stephanie Efthymiou Simon Pope Maria R Conte Giancarlo Abis Yo-Tsen Liu Eloise Tribollet Nourelhoda A Haridy Juan A Botía Mina Ryten Paschalis Nicolaou Anna Minaidou Kyproula Christodoulou Kristin D Kernohan Alison Eaton Matthew Osmond Yoko Ito Pierre Bourque James E C Jepson Oscar Bello Fion Bremner Carla Cordivari Mary M Reilly Martha Foiani Amanda Heslegrave Henrik Zetterberg Simon J R Heales Nicholas W Wood James E Rothman Kym M Boycott Philippa B Mills Peter T Clayton Henry Houlden

Ann Neurol 2019 08 1;86(2):225-240. Epub 2019 Jul 1.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

View Article and Find Full Text PDF
August 2019

An update on advances in magnetic resonance imaging of multiple system atrophy.

Authors:
Viorica Chelban Martina Bocchetta Sara Hassanein Nourelhoda A Haridy Henry Houlden Jonathan D Rohrer

J Neurol 2019 Apr 20;266(4):1036-1045. Epub 2018 Nov 20.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, WC1N 3BG, London, UK.

View Article and Find Full Text PDF
April 2019

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Authors:
Viorica Chelban Sarah Wiethoff Bjørn K Fabian-Jessing Nourelhoda A Haridy Alaa Khan Stephanie Efthymiou Esther B E Becker Emer O'Connor Joshua Hersheson Katrina Newland Allan Thomas Hojland Pernille A Gregersen Suzanne G Lindquist Michael B Petersen Jørgen E Nielsen Michael Nielsen Nicholas W Wood Paola Giunti Henry Houlden

Mov Disord 2018 07 30;33(7):1119-1129. Epub 2018 Mar 30.

Department of Molecular Neuroscience, University College London, Institute of Neurology, London, UK.

View Article and Find Full Text PDF
July 2018

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

Authors:
Sarah Wiethoff Emer O'Connor Nourelhoda A Haridy Suran Nethisinghe Nicholas Wood Paola Giunti Conceição Bettencourt Henry Houlden

J Neurol Neurosurg Psychiatry 2018 11 24;89(11):1226-1227. Epub 2018 Jan 24.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

View Article and Find Full Text PDF
November 2018

Severe axonal neuropathy is a late manifestation of SPG11.

Authors:
Andreea Manole Viorica Chelban Nourelhoda A Haridy Sherifa A Hamed Andrés Berardo Mary M Reilly Henry Houlden

J Neurol 2016 Nov 20;263(11):2278-2286. Epub 2016 Aug 20.

Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

View Article and Find Full Text PDF
November 2016

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Authors:
Eleanna Kara Arianna Tucci Claudia Manzoni David S Lynch Marilena Elpidorou Conceicao Bettencourt Viorica Chelban Andreea Manole Sherifa A Hamed Nourelhoda A Haridy Monica Federoff Elisavet Preza Deborah Hughes Alan Pittman Zane Jaunmuktane Sebastian Brandner Georgia Xiromerisiou Sarah Wiethoff Lucia Schottlaender Christos Proukakis Huw Morris Tom Warner Kailash P Bhatia L V Prasad Korlipara Andrew B Singleton John Hardy Nicholas W Wood Patrick A Lewis Henry Houlden

Brain 2016 07 23;139(Pt 7):1904-18. Epub 2016 May 23.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Alzheimer's Disease Research Centre, Department of Neurology, Harvard Medical School and Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA

View Article and Find Full Text PDF
July 2016