Phillipa J. Lamont - Concepedia

Author

Phillipa J. Lamont

Also Known As

P J Lamont, P Lamont, P. J. Lamont, P. Lamont, P.J Lamont, P.J. Lamont, PHILLIPA LAMONT, Paul J Lockhart, Paul J. Lockhart, Phillipa J Lamont

124

Publications

4.2K

Citations

H-Index

Concepts

All Affiliations

Royal Perth Hospital Harry Perkins Institute of Medical Research The University of Western Australia Queen Elizabeth II Medical Centre Pathwest Laboratory Medicine

About

Phillipa J. Lamont is an author at Royal Perth Hospital specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	27	2.6K
2	Health Sciences	3	3	170
3	Natural Sciences	3	3	372
4	Engineering	1	1	56
5	Public Health	1	1	52

Phillipa J. Lamont

Publications

3.9K

Citations

H-Index

Page 1

	Year	Citations
Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study James F. Howard, Kimiaki Utsugisawa, Michael Benatar, The Lancet Neurology Multicentre StudyPharmacologyMedicineMyasthenia GravisNeuromuscular Blockade	2017	745
Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1) Christopher S. Meredith, Ralf Herrmann, Cheryl Parry, The American Journal of Human Genetics Mitochondrial MyopathyMuscle FunctionSkeletal MuscleGenetic DisorderGenetics	2004	227
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia David Pellerin, Matt C. Danzi, Carlo Wilke, New England Journal of Medicine	2022	222
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion Andrea Cortese, Stefano Tozza, Wai Yan Yau, Brain Vestibular Areflexia SyndromeMotor DysfunctionNeurological DisorderCorticobasal DegenerationPathology	2020	213
STRetch: detecting and discovering pathogenic short tandem repeat expansions Harriet Dashnow, Monkol Lek, Belinda Phipson, Genome biology	2018	175
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé, The American Journal of Human Genetics Genetic DisorderGeneticsPathologyMolecular GeneticsCause Nemaline Myopathy	2010	157
Congenital Titinopathy: Comprehensive characterization and pathogenic insights Emily C. Oates, Kristi Jones, Sandra Donkervoort, Annals of Neurology	2018	152
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene Mark R. Davis, Eric Haan, Heinz Jungbluth, Neuromuscular Disorders Mendelian DisorderGenetic DisorderPrincipal Mutation HotspotGeneticsPathogenesis	2003	132
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations Helen Swalwell, Denise M. Kirby, Emma L. Blakely, European Journal of Human Genetics Mitochondrial MyopathyRespiratory Chain ComplexMendelian DisorderMitochondrial BiogenesisMitochondrial Function	2011	125
An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy Kim M. Clark, Robert W. Taylor, Margaret A. Johnson, The American Journal of Human Genetics Initiation CodonMitochondrial FunctionGenetic DisorderNatural SciencesGenetics	1999	115

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