Search Results

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

• Authors : Beecroft SJ; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Yau KS

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods ; Neuromuscular Diseases/Neuromuscular Diseases/Neuromuscular Diseases/*diagnosis

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Mar; Vol. 7 (3), pp. 353-362. Date of Electronic Publication: 2020 Mar Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Regional motor cortex dysfunction in amyotrophic lateral sclerosis.

• Authors : Menon P; Westmead Hospital, Sydney, New South Wales, Australia.; University of Sydney, Sydney, New South Wales, Australia.

Subjects: Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*physiopathology ; Motor Cortex/Motor Cortex/Motor Cortex/*physiopathology; Adult

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Aug; Vol. 6 (8), pp. 1373-1382. Date of Electronic Publication: 2019 JunPublisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Independent study demonstrates amyloid probability score accurately indicates amyloid pathology.

• Authors : Fogelman I; C2N Diagnostics, St. Louis, Missouri, USA.; West T

Subjects: Amyloid beta-Peptides* ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/diagnostic imaging ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/pathology

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 May; Vol. 10 (5), pp. 765-778. Date of Electronic Publication: 2023 Mar Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy.

• Authors : D'Silva AM; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.

Subjects: Drug-Related Side Effects and Adverse Reactions* ; Muscular Atrophy, Spinal* ; Spinal Muscular Atrophies of Childhood*/Spinal Muscular Atrophies of Childhood*/Spinal Muscular Atrophies of Childhood*/drug therapy

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Mar; Vol. 9 (3), pp. 339-350. Date of Electronic Publication: 2022 Feb Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Neural networks associated with body composition in frontotemporal dementia.

• Authors : Ahmed RM; Memory and Cognition Clinic, Department of Clinical Neurosciences, Royal Prince Alfred Hospital, Sydney, Australia.; Central Sydney Medical School and Brain & Mind Centre, The University of Sydney, Sydney, Australia.

Subjects: Body Composition/Body Composition/Body Composition/*physiology ; Brain/Brain/Brain/*diagnostic imaging ; Frontotemporal Dementia/Frontotemporal Dementia/Frontotemporal Dementia/*diagnostic imaging

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Sep; Vol. 6 (9), pp. 1707-1717. Date of Electronic Publication: 2019 AugPublisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

• Authors : Yau WY; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia, Australia.; Ashton C

Subjects: Deep Brain Stimulation* ; RNA Polymerase III*/RNA Polymerase III*/RNA Polymerase III*/genetics ; Dystonia*/Dystonia*/Dystonia*/genetics Spastic Ataxia

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jun; Vol. 11 (6), pp. 1636-1642. Date of Electronic Publication: 2024 Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Circulating ceramide ratios and risk of vascular brain aging and dementia.

• Authors : McGrath ER; Department of Neurology, Brigham & Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.

Subjects: Aging/Aging/Aging/*blood ; Ceramides/Ceramides/Ceramides/*blood ; Dementia/Dementia/Dementia/*blood

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Feb; Vol. 7 (2), pp. 160-168. Date of Electronic Publication: 2020 Jan Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Application of the international criteria for optic neuritis in the Acute Optic Neuritis Network.

• Authors : Klyscz P; Experimental and Clinical Research Center, A Cooperation between Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité - Universitätsmedizin Berlin, Berlin, Germany.; Department of Neurology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Aug 04. Date of Electronic Publication: 2024 Aug 04.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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The clinical relevance of MOG antibody testing in cerebrospinal fluid.

• Authors : Reynolds M; Australasian MOGAD Study Group

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jul 28. Date of Electronic Publication: 2024 Jul 28.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Gradient of microstructural damage along the dentato-thalamo-cortical tract in Friedreich ataxia.

• Authors : Cocozza S; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy.; Bosticardo S

Subjects: Friedreich Ataxia*/Friedreich Ataxia*/Friedreich Ataxia*/pathology ; Friedreich Ataxia*/Friedreich Ataxia*/Friedreich Ataxia*/diagnostic imaging ; Diffusion Tensor Imaging*

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jul; Vol. 11 (7), pp. 1691-1702. Date of Electronic Publication: 2024 Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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