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ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.

Autor: Williams L; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia. Electronic address: laurajane.williams@health.nsw.gov.au., Waller SE; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia., Bradley M; Department of Neurology, Beaumont Hospital, Beaumont, Dublin 9, Ireland., Lockhart A; Department of Neurology, Beaumont Hospital, Beaumont, Dublin 9, Ireland., Narayanan RK; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia., Kumar KR; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Faculty of Medicine and Health, University of New South Wales, Australia; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, NSW, Australia., Morales Briceno H; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia., Tchan M; Department of Medical Genetics, Westmead Hospital, Westmead, NSW, 2145, Australia., Healy DG; Department of Neurology, Beaumont Hospital, Beaumont, Dublin 9, Ireland., Fung VSC; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia; Faculty of Medicine and Health, University of New South Wales, Australia.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2023 Dec; Vol. 117, pp. 105864. Date of Electronic Publication: 2023 Oct 05.

Teaching Video NeuroImage: Facial-Faucial-Finger Myoclonus in Kufor-Rakeb Syndrome.

Autor: Waller SE; From the Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, Australia. sophie.waller@health.nsw.gov.au., Williams L; From the Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, Australia., Morales-Briceño H; From the Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, Australia., Fung VSC; From the Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, Australia.

Publikováno v: Neurology [Neurology] 2022 Jul 25; Vol. 99 (4), pp. 172-173. Date of Electronic Publication: 2022 Jul 25.

Possible EIF2AK2 -Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

Autor: Waller SE; Movement Disorders Unit, Neurology Department Westmead Hospital Westmead New South Wales Australia., Morales-Briceño H; Movement Disorders Unit, Neurology Department Westmead Hospital Westmead New South Wales Australia.; Sydney Medical School University of Sydney Sydney NSW Australia., Williams L; Movement Disorders Unit, Neurology Department Westmead Hospital Westmead New South Wales Australia., Mohammad SS; The Children's Hospital at Westmead Clinical School University of Sydney Westmead New South Wales Australia., Fellner A; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital Petah Tikva Israel.; The Neurology Department Rabin Medical Center, Belinson Hospital Petah Tikva Israel.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research Darlinghurst New South Wales Australia., Kumar KR; Sydney Medical School University of Sydney Sydney NSW Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research Darlinghurst New South Wales Australia.; Molecular Medicine Laboratory and Neurology Department Concord Repatriation General Hospital Concord New South Wales Australia., Tchan M; Sydney Medical School University of Sydney Sydney NSW Australia.; Department of Clinical Genetics Westmead Hospital Westmead New South Wales Australia., Fung VSC; Movement Disorders Unit, Neurology Department Westmead Hospital Westmead New South Wales Australia.; Sydney Medical School University of Sydney Sydney NSW Australia.

Publikováno v: Movement disorders clinical practice [Mov Disord Clin Pract] 2021 Dec 16; Vol. 9 (2), pp. 240-244. Date of Electronic Publication: 2021 Dec 16 (Print Publication: 2022).

Electrospray Ionization-Based Synthesis and Validation of Amine-Sulfuric Acid Clusters of Relevance to Atmospheric New Particle Formation.

Autor: Waller SE; Department of Chemistry, Stony Brook University, 100 Nicolls Road, Stony Brook, NY, 11794, USA., Yang Y; Department of Chemistry, Stony Brook University, 100 Nicolls Road, Stony Brook, NY, 11794, USA., Castracane E; Department of Chemistry, Stony Brook University, 100 Nicolls Road, Stony Brook, NY, 11794, USA., Kreinbihl JJ; Department of Chemistry, Stony Brook University, 100 Nicolls Road, Stony Brook, NY, 11794, USA., Nickson KA; Department of Chemistry, Stony Brook University, 100 Nicolls Road, Stony Brook, NY, 11794, USA., Johnson CJ; Department of Chemistry, Stony Brook University, 100 Nicolls Road, Stony Brook, NY, 11794, USA. chris.johnson@stonybrook.edu.

Publikováno v: Journal of the American Society for Mass Spectrometry [J Am Soc Mass Spectrom] 2019 Nov; Vol. 30 (11), pp. 2267-2277. Date of Electronic Publication: 2019 Sep 10.