Publications by authors named "Hugo Sampaio"

24Publications

Changes in grassland management and linear infrastructures associated to the decline of an endangered bird population.

Sci Rep 2020 09 16;10(1):15150. Epub 2020 Sep 16.

CIBIO/InBIO, Centro de Investigação Em Biodiversidade E Recursos Genéticos, Laboratório Associado, Universidade Do Porto, Campus Agrário de Vairão, 4485-661, Vairão, Portugal.

View Article and Find Full Text PDF
September 2020

Nutritional practices in pediatric patients with neuromuscular disorders.

Nutr Rev 2020 10;78(10):857-865

Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.

View Article and Find Full Text PDF
October 2020

Endovascular clot retrieval for acute ischaemic stroke due to basilar artery occlusion in childhood.

Dev Med Child Neurol 2020 10 3;62(10):1221-1223. Epub 2020 Jan 3.

Department of Neurology, Sydney Children's Hospital, Randwick, Australia.

View Article and Find Full Text PDF
October 2020

Next generation sequencing of human enterovirus strains from an outbreak of enterovirus A71 shows applicability to outbreak investigations.

J Clin Virol 2020 01 17;122:104216. Epub 2019 Nov 17.

Virology Research Laboratory, Serology and Virology Division (SAViD), NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW 2031, Australia; School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia; Serology and Virology Division (SAViD), NSW Health Pathology East, Department of Microbiology, Prince of Wales Hospital, Sydney, NSW 2031, Australia; School of Women's and Children's Health, University of New South Wales Medicine, Sydney, NSW 2052, Australia.

View Article and Find Full Text PDF
January 2020

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

Neuromuscul Disord 2019 12 25;29(12):913-919. Epub 2019 Sep 25.

Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales 2145, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia. Electronic address:

View Article and Find Full Text PDF
December 2019

Whole-Exome Sequencing Implicates in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity.

Int J Mol Sci 2018 Oct 11;19(10). Epub 2018 Oct 11.

Genomics Research Centre, Institute of Health and Biomedical Innovation (IHBI), School of Biomedical Sciences, Queensland University of Technology (QUT), Q Block, 60 Musk Ave, Kelvin Grove Campus, Brisbane 4059, QLD, Australia.

View Article and Find Full Text PDF
October 2018

Screening for spinal muscular atrophy.

Med J Aust 2018 08;209(4):147-148

Sydney Children's Hospital, Sydney, NSW.

View Article and Find Full Text PDF
August 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

View Article and Find Full Text PDF
June 2018

EU protected area network did not prevent a country wide population decline in a threatened grassland bird.

PeerJ 2018 23;6:e4284. Epub 2018 Jan 23.

REN Biodiversity Chair, CIBIO/InBIO-Research Centre in Biodiversity and Genetic Resources, University of Porto, Vairão, Portugal.

View Article and Find Full Text PDF
January 2018

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Neural Plast 2017 28;2017:6509493. Epub 2017 May 28.

Department of Paediatric Neurology, Sydney Children's Hospital, Randwick, NSW, Australia.

View Article and Find Full Text PDF
March 2018

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Mitochondrion 2016 09 27;30:162-7. Epub 2016 Jul 27.

Institute for Neuroscience and Muscle Research and T.Y. Nelson Department of Neurology & Neurosurgery, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, Australia.

View Article and Find Full Text PDF
September 2016

Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing.

J Neurol Neurosurg Psychiatry 2016 12 14;87(12):1384-1385. Epub 2016 Jun 14.

School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, New South Wales, Australia.

View Article and Find Full Text PDF
December 2016