Publications by authors named "Neil Mahant"

45Publications

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Dec;143(11):3242-3261

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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December 2020

A survey of falls in people with dystonia.

Physiother Res Int 2020 Jul 8;25(3):e1840. Epub 2020 Apr 8.

Discipline of Physiotherapy, Graduate School of Health, University of Technology, Sydney, Australia.

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July 2020

"On-State" Freezing of Gait: Insights and Treatment With Levodopa Intestinal Gel Infusion.

Mov Disord 2020 05 13;35(5):895-896. Epub 2020 Mar 13.

Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, Australia.

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May 2020

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Parkinsonism Relat Disord 2019 12 7;69:111-118. Epub 2019 Nov 7.

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, New South Wales, 2065, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Camperdown, 2050, Australia; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, 2065, Australia. Electronic address:

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December 2019

Hitting the brakes: pathological subthalamic nucleus activity in Parkinson's disease gait freezing.

Brain 2019 12;142(12):3906-3916

ForeFront Parkinson's Disease Research Clinic, Brain and Mind Centre, University of Sydney, Australia.

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December 2019

Long-term safety and efficacy of 24-hour levodopa-carbidopa intestinal gel in Parkinson's disease.

Mov Disord 2019 11 11;34(11):1747-1748. Epub 2019 Oct 11.

Movement Disorders Unit, Neurology Department, Westmead Hospital, Corner Darcy and Hawkesbury Road, Westmead, NSW, Australia.

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November 2019

Levodopa/carbidopa intestinal gel infusion can improve camptocormia in Parkinson's disease.

Parkinsonism Relat Disord 2019 08 10;65:282-283. Epub 2019 Jun 10.

Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, 2145, Australia. Electronic address:

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August 2019

Thrombolysis Guided by Perfusion Imaging up to 9 Hours after Onset of Stroke.

N Engl J Med 2019 05;380(19):1795-1803

From Florey Institute of Neuroscience and Mental Health (H.M., L. Churilov, N.Y., V.T., L. Carey, A.M., G.A.D.), the Department of Medicine and Neurology, Melbourne Brain Centre at the Royal Melbourne Hospital (B.C.V.C., M.W.P., L. Churilov, S. Christensen, N.Y., G.S., A.B., B.Y., A.M., S.M.D., G.A.D.), and the Department of Radiology, Royal Melbourne Hospital (P.M.D., B.Y., P.J.M.), University of Melbourne, Parkville, the Department of Medicine, School of Clinical Science, Monash University, Clayton (H.M., T.G.P.), the Departments of Medicine and Neurology, Melbourne Medical School, University of Melbourne and Western Health, Sunshine Hospital, St. Albans (T.W.), the Department of Neurosciences, Eastern Health and Eastern Health Clinical School, Monash University, Box Hill (H.M.D., C.F.B.), the Department of Neurology, University Hospital Geelong, Deakin University, Geelong (B.C.), the Department of Neurology, Austin Hospital, Austin Health, Heidelberg (V.T.), and Occupational Therapy, School of Allied Health, College of Science, Health and Engineering, La Trobe University, Bundoora (L. Carey), VIC, the Department of Neurology, Priority Research Centre for Brain and Mental Health Research, John Hunter Hospital (C.R.L., F.M.), University of Newcastle (J.S.), Newcastle, the Department of Neurology, Westmead Hospital (N.M.), the Department of Neurology, Royal North Shore Hospital and Kolling Institute, University of Sydney (M.K.), and the Department of Neurology, St. Vincent's Hospital Sydney (R.M.), Sydney, and the Department of Neurology, Gosford Hospital, Gosford (J.S.), NSW, the Department of Neurology, Royal Adelaide Hospital (T.J.K., J.J.), the Department of Neurology, Lyell McEwin Hospital (D.F.), and the Department of Neurology, Queen Elizabeth Hospital (J.J.), Adelaide, SA, the Department of Medicine, Sunshine Coast University Hospital, Nambour (R.G.), the Department of Neurology, Royal Brisbane and Women's Hospital and the University of Queensland, Brisbane (A.A.W.), and the Department of Neurology, Gold Coast University Hospital, Southport (A.S.), and Australia and Griffith University, Gold Coast (A.S.), QLD - all in Australia; the Graduate Institute of Clinical Medical Science (C.H.) and the School of Medicine (C.-H.T.), China Medical University, and the Department of Neurology, China Medical University Hospital (C.-H.T.), Taichung, the Department of Neurology, Tri-Service General Hospital, National Defense Medical Center (J.-T.L.), the Department of Neurology, Shuang Ho Hospital (C.-J.H.), the Department of Neurology, En Chu Kong Hospital (Y.S.), the Stroke Center and Department of Neurology, National Taiwan University Hospital (J.-S.J.), and the Department of Neurology, Shin Kong Wu Ho-Su Memorial Hospital, Taipei Medical University College of Medicine (L.-M.L.), Taipei, the Stroke Center and Department of Neurology, Changhua Christian Hospital, Changhua (M.-C.S.), the Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan (C.-H.C.), and the Department of Neurology, Kaohsiung Veterans General Hospital, Kaohsiung (C.-H.L.) - all in Taiwan; the Department of Neurology, Helsinki University Hospital, Helsinki (S. Curtze, A.M.); the Department of Neurology, Auckland City Hospital, University of Auckland, Auckland, New Zealand (P.A.B.); and the Stanford Stroke Center, Stanford University, Stanford, CA (S. Christensen).

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May 2019

Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.

Mov Disord 2019 07 29;34(7):1079-1080. Epub 2019 Apr 29.

Neurology Department, The Children's Hospital at Westmead Clinical School, University of Sydney, New South Wales, Australia.

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July 2019

Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome.

Mov Disord Clin Pract 2019 Mar 25;6(3):263-264. Epub 2019 Feb 25.

Movement Disorders Unit, Department of Neurology Westmead Hospital Sydney Australia.

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March 2019

24-hour levodopa-carbidopa intestinal gel may reduce troublesome dyskinesia in advanced Parkinson's disease.

NPJ Parkinsons Dis 2018 20;4:34. Epub 2018 Nov 20.

1Movement Disorders Unit, Neurology Department, Westmead Hospital, Corner Darcy and Hawkesbury Road, Westmead, NSW 2145 Australia.

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November 2018

Primary orthostatic tremor: is deep brain stimulation better than spinal cord stimulation?

J Neurol Neurosurg Psychiatry 2017 09 12;88(9):804-805. Epub 2017 Jun 12.

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney Medical School, University of Sydney, Sydney, Australia.

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September 2017

encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Neurol Genet 2017 Apr 21;3(2):e143. Epub 2017 Mar 21.

Department of Paediatrics, Child Neurology and Psychiatry (F.R.D., S.G., V.L.), Sapienza University of Rome, Italy; Molecular Neurosciences, Developmental Neurosciences Programme (F.R.D., J.N., A.M., M.A.K.), University College London Institute of Child Health, UK; Department of Neurology (F.R.D., J.N., A.M., M.A.K.), Great Ormond Street Hospital for Children, London, UK; GENOMA Group (M.R.), Molecular Genetics Laboratory, Rome, Italy; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (M.M., E.P., C.B., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Italy; Department of Haematology (K.J.C.), University of Cambridge, NHS Blood and Transplant Centre, UK; NIHR Bioresource Rare Diseases (K.J.C., F.L.R.), University of Cambridge, UK; Department of Neurology (N.M.), Westmead Hospital, Sydney, Australia; Childrens Hospital Oxford (T.M.), John Radcliffe Hospital, UK; Institute for Neuroscience and Muscle Research (R.C.D., S.S.M., U.S.), the Children's Hospital at Westmead, University of Sydney, Australia; Department of Medical Genetics (F.L.R.), Cambridge Institute for Medical Research, University of Cambridge, UK; Department of Neurology (R.S.), University Hospitals Leicester NHS Trust, UK; Department of Paediatric Neurology (G.V.), Leeds Teaching Hospitals NHS Trust, UK; Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Italy; and Neurogenetics Unit (E.M.V.), IRCCS Fondazione Santa Lucia, Rome, Italy.

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April 2017

Postural tremor and chronic inflammatory demyelinating polyneuropathy.

Muscle Nerve 2017 03 2;55(3):338-343. Epub 2016 Dec 2.

Western Clinical School, University of Sydney, Sydney, Australia.

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March 2017

Botulinum Toxin for the Management of Sjögren Syndrome-Associated Recurrent Parotitis.

J Oral Maxillofac Surg 2016 Dec 18;74(12):2428-2430. Epub 2016 Jun 18.

Neurologist, Sydney Medical School and Department of Neurology, Westmead Hospital, Sydney, New South Wales, Australia.

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December 2016

Neurophysiological Features Of Hemiballism.

Mov Disord Clin Pract 2017 Jan-Feb;4(1):116-120. Epub 2016 May 19.

Movement Disorders Unit Department of Neurology Westmead Hospital Sydney New South Wales Australia.

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May 2016

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

J Child Neurol 2016 07 6;31(8):1027-35. Epub 2016 Apr 6.

Department of Neurology, Boston Children's Hospital, Boston, MA, USA Department of Neurology, Massachusetts General Hospital, Boston, MA, USA Harvard Medical School, Boston, MA, USA.

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July 2016

Clinical outcomes in the surgical treatment of idiopathic normal pressure hydrocephalus.

J Clin Neurosci 2016 Jul 28;29:81-6. Epub 2016 Feb 28.

Department of Neurosurgery, Sydney Adventist Hospital, Sydney, NSW, Australia; Department of Surgery, University of Sydney, Sydney, NSW, Australia.

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July 2016

A Review of Clinical Outcomes for Gait and Other Variables in the Surgical Treatment of Idiopathic Normal Pressure Hydrocephalus.

Mov Disord Clin Pract 2016 Jul-Aug;3(4):331-341. Epub 2016 Feb 18.

Department of Neurosurgery Sydney Adventist Hospital Sydney Australia.

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February 2016

Intraduodenal levodopa-carbidopa intestinal gel infusion improves both motor performance and quality of life in advanced Parkinson's disease.

J Clin Neurosci 2016 Mar 14;25:41-5. Epub 2016 Jan 14.

Movement Disorders Unit, Neurology Department, Westmead Hospital, Corner Darcy and Hawkesbury Road, Westmead, NSW 2145, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

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March 2016

24 h Levodopa-carbidopa intestinal gel may reduce falls and "unresponsive" freezing of gait in Parkinson's disease.

Parkinsonism Relat Disord 2015 Mar 26;21(3):317-20. Epub 2014 Dec 26.

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

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March 2015

Stiff Limb Syndrome Mimicking Corticobasal Syndrome.

Mov Disord Clin Pract 2014 Dec 28;1(4):354-356. Epub 2014 Oct 28.

Department of Neurology Westmead Hospital Westmead NSW Australia.

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December 2014

Resolution of Othello Syndrome After Subthalamic Nucleus Deep Brain Stimulation in 3 Patients with Parkinson's Disease.

Mov Disord Clin Pract 2014 Dec 16;1(4):357-360. Epub 2014 Sep 16.

Movement Disorders Unit Department of Neurology Westmead Hospital Sydney Australia.

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December 2014

Treatment of proximal upper limb tremor with botulinum toxin therapy.

Mov Disord 2014 May 20;29(6):835-8. Epub 2013 Nov 20.

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, New South Wales, Australia.

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May 2014

Movement disorders associated with CLIPPERS.

Mov Disord 2014 Jan 12;29(1):148-50. Epub 2013 Nov 12.

Movement Disorders Unit, Westmead Hospital, Westmead, Sydney, New South Wales, Australia.

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January 2014

Cortical limb myoclonus in pathologically proven progressive supranuclear palsy.

Mov Disord 2013 Nov 4;28(13):1804-6. Epub 2013 Oct 4.

Sydney Medical School, University of Sydney, Sydney, Australia.

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November 2013

Effect of impulse control disorders on disability and quality of life in Parkinson's disease patients.

J Clin Neurosci 2014 Jan 10;21(1):63-6. Epub 2013 Sep 10.

University of Sydney, Nepean Clinical School, NSW, Australia; Royal North Shore Hospital, Pacific Highway, St Leonards, NSW 2065, Australia. Electronic address:

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January 2014

The spot sign and tranexamic acid on preventing ICH growth--AUStralasia Trial (STOP-AUST): protocol of a phase II randomized, placebo-controlled, double-blind, multicenter trial.

Int J Stroke 2014 Jun 26;9(4):519-24. Epub 2013 Aug 26.

Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Neurology, The Royal Melbourne Hospital, Parkville, Victoria, Australia; The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia; Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.

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June 2014

Dramatic improvement of truncal tardive dystonia following globus pallidus pars interna deep brain stimulation.

J Clin Neurosci 2014 Mar 19;21(3):515-7. Epub 2013 Jun 19.

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Hawkesbury Road, Westmead, NSW 2145, Australia; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia. Electronic address:

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March 2014

Abnormalities of neuromuscular transmission in patients with Miller-Fisher syndrome.

J Clin Neurosci 2012 Nov 30;19(11):1599-601. Epub 2012 Aug 30.

Department of Neurology, Westmead Hospital, Cnr Hawkesbury and Darcy Road, Westmead, New South Wales 2145, Australia.

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November 2012

Active exercise for individuals with cervical dystonia: a pilot randomized controlled trial.

Clin Rehabil 2013 Mar 17;27(3):226-35. Epub 2012 Aug 17.

Physiotherapy Department, Westmead Hospital, Australia.

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March 2013

Dysexecutive behaviour following deep brain lesions--a different type of disconnection syndrome?

Cortex 2012 Jan 31;48(1):97-119. Epub 2011 Mar 31.

Sydney Medical School-Nepean, University of Sydney, Nepean Hospital, Penrith, Australia.

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January 2012

Changes in cortical and pallidal oscillatory activity during the execution of a sensory trick in patients with cervical dystonia.

Exp Neurol 2007 Apr 19;204(2):845-8. Epub 2007 Jan 19.

Department of Physiology, Med Sci Bldg 3302, 1 King's College Circle, University of Toronto, Toronto, Ontario, Canada M5S 1A8.

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April 2007

Beta oscillatory activity in the subthalamic nucleus and its relation to dopaminergic response in Parkinson's disease.

J Neurophysiol 2006 Dec 27;96(6):3248-56. Epub 2006 Sep 27.

Department of Physiology, Med Sci Building 3302, 1 King's College Circle, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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December 2006

Firing rates of pallidal neurons are similar in Huntington's and Parkinson's disease patients.

Exp Brain Res 2005 Oct 5;166(2):230-6. Epub 2005 Aug 5.

Department of Physiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada, M5S 1A8.

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October 2005

Deep brain stimulation surgery for Parkinson's disease: mechanisms and consequences.

Parkinsonism Relat Disord 2004 May;10 Suppl 1:S49-57

Division of Neurosurgery, Department of Surgery, The Toronto Western Hospital Research Institute, 399 Bathurst Street, Toronto, Ont., Canada M5T 2S8.

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May 2004