Publications by authors named "Matthew Parton"

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A Novel Variant in Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
Katarzyna Robaszkiewicz, Małgorzata Siatkowska, Renske I Wadman, Erik-Jan Kamsteeg, Zhiyong Chen, Matthew Parton

Int J Mol Sci· November 2023

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Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Enrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos, Marisela Dagda, Tatiana M Fontelonga, Matthew Parton

J Am Heart Assoc· December 2022

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Differential Diagnoses of Inclusion Body Myositis.
Vinojini Vivekanandam, Enrico Bugiardini, Ashirwad Merve, Matthew Parton, Jasper M Morrow

Neurol Clin· August 2020

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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Alejandro Horga, Catherine E Woodward, Alberto Mills, Isabel Pareés, Iain P Hargreaves, Matthew J Parton

Hum Genet· December 2019

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Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
Peter W Schutz, Renata S Scalco, Rita Barresi, Henry Houlden, Matthew Parton

Neuromuscul Disord· August 2017

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Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.
Qiang Gang, Conceição Bettencourt, Pedro M Machado, Stefen Brady, Janice L Holton, Matthew Parton

Neurobiol Aging· November 2016

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Seizure: acute investigation and management.
Helen Devine, Matthew Parton

Br J Hosp Med (Lond)· September 2016

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Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Fatima Jaffer, Andreja Avbersek, Rosaria Vavassori, Carmen Fons, Jaume Campistol, Matthew Parton

Brain· October 2015

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Ongoing developments in sporadic inclusion body myositis.
Pedro M Machado, Mhoriam Ahmed, Stefen Brady, Qiang Gang, Estelle Healy, Matthew Parton

Curr Rheumatol Rep· December 2014

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Cerebellar ataxia and epilepsy with anti-GAD antibodies: treatment with IVIG and plasmapheresis.
Zoya Georgieva, Matthew Parton

BMJ Case Rep· January 2014

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Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.
Deborah M Ruddy, Matthew J Parton, Ammar Al-Chalabi, Cathryn M Lewis, Caroline Vance

Am J Hum Genet· August 2003

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Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.
Ammar Al-Chalabi, Margaret D Scheffler, Bradley N Smith, Matthew J Parton, Merit E Cudkowicz

Ann Neurol· July 2003

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D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
Matthew J Parton, Wendy Broom, Peter M Andersen, Ammar Al-Chalabi, P Nigel Leigh

Hum Mutat· December 2002

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CuZn-superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigrees.
P Andreas Jonsson, Asa Bäckstrand, Peter M Andersen, Johan Jacobsson, Matthew Parton

Neurobiol Dis· August 2002

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