Publications by authors named "Mandy Jackson"

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Automated gait analysis indicates efficacy of T-type calcium channel inhibition for mitigation of disrupted calcium signalling in an SCA5 mouse model.
Daumante Suminaite, Nurul Fatihah Talib, Sophie Jane Pettegree, Han Chew Gaelan Tan, Yvonne Louise Odey, Mandy Jackson

Sci Rep· July 2025

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Spinal cord neurone loss and foot placement changes in a rat knock-in model of amyotrophic lateral sclerosis Type 8.
Brenda Murage, Han Tan, Tomoji Mashimo, Mandy Jackson, Paul A Skehel

Brain Commun· May 2024

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Feasibility of a randomised controlled trial to evaluate home-based virtual reality therapy in children with cerebral palsy.
William J Farr, Dido Green, Stephen Bremner, Ian Male, Heather Gage, Mandy Jackson

Disabil Rehabil· January 2021

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MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.
Alexander S Brown, Pratap Meera, Banu Altindag, Ravi Chopra, Emma M Perkins, Mandy Jackson

Proc Natl Acad Sci U S A· December 2018

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Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells.
Emma M Perkins, Yvonne L Clarkson, Daumante Suminaite, Alastair R Lyndon, Kohichi Tanaka, Mandy Jackson

Hum Mol Genet· August 2018

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A Bi-fluorescence complementation system to detect associations between the Endoplasmic reticulum and mitochondria.
Mark Harmon, Philip Larkman, Giles Hardingham, Mandy Jackson, Paul Skehel

Sci Rep· December 2017

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Colonisation of Irish patients with chronic obstructive pulmonary disease by and analysis of the pneumococcal vaccine coverage: a non-interventional, observational, prospective cohort study.
Hannah McCarthy, Mandy Jackson, Mary Corcoran, Martha McElligott, Elaine MacHale

BMJ Open· July 2017

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Objective Assessment of Adherence to Inhalers by Patients with Chronic Obstructive Pulmonary Disease.
Imran Sulaiman, Breda Cushen, Garrett Greene, Jansen Seheult, Dexter Seow, Mandy Jackson

Am J Respir Crit Care Med· May 2017

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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Emma A Hall, Michael S Nahorski, Lyndsay M Murray, Ranad Shaheen, Emma Perkins, Ian J Jackson, Mandy Jackson

Am J Hum Genet· May 2017

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Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST.
Emma M Perkins, Daumante Suminaite, Yvonne L Clarkson, Sin Kwan Lee, Alastair R Lyndon, Mandy Jackson

Hum Mol Genet· October 2016

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Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.
Emma Perkins, Daumante Suminaite, Mandy Jackson

J Physiol· August 2016

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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, Wayne I L Davies, Maria Cristina D'Adamo, Mandy Jackson

Brain· July 2015

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β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
Yvonne L Clarkson, Emma M Perkins, Callum J Cairncross, Alastair R Lyndon, Paul A Skehel, Mandy Jackson

Hum Mol Genet· July 2014

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Control of synaptic vesicle endocytosis by an extracellular signalling molecule.
Karen J Smillie, Jonathan Pawson, Emma M Perkins, Mandy Jackson, Michael A Cousin

Nat Commun· April 2014

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Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.
Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Mandy Jackson

PLoS Genet· May 2013

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Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo.
Thomas M Wishart, Timothy M Rooney, Douglas J Lamont, Ann K Wright, A Jennifer Morton, Mandy Jackson

PLoS Genet· January 2013

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An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with multiple cerebrovascular risk factors.
Mitsunori Watanabe, Yoshiki Adachi, Mandy Jackson, Yukiko Yamamoto-Watanabe, Yasuhito Wakasaya

J Stroke Cerebrovasc Dis· February 2012

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β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.
Yuanzheng Gao, Emma M Perkins, Yvonne L Clarkson, Steven Tobia, Alastair R Lyndon, Mandy Jackson

J Neurosci· November 2011

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Prevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan.
Yukiko Yamamoto-Watanabe, Mitsunori Watanabe, Motofumi Hikichi, Yoshio Ikeda, Mandy Jackson

Intern Med· March 2011

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Quantification of cystatin C in cerebrospinal fluid from various neurological disorders and correlation with G73A polymorphism in CST3.
Yukiko Yamamoto-Watanabe, Mitsunori Watanabe, Mandy Jackson, Hiroyuki Akimoto, Kazuhiro Sugimoto

Brain Res· November 2010

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Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
Yvonne L Clarkson, Trudi Gillespie, Emma M Perkins, Alastair R Lyndon, Mandy Jackson

Hum Mol Genet· September 2010

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A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report.
Yukiko Yamamoto-Watanabe, Mitsunori Watanabe, Koichi Okamoto, Yukio Fujita, Mandy Jackson

J Neurol Sci· September 2010

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Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
Emma M Perkins, Yvonne L Clarkson, Nancy Sabatier, David M Longhurst, Christopher P Millward, Mandy Jackson

J Neurosci· April 2010

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An unusual case of chronic relapsing tetanus associated with mandibular osteomyelitis.
Yasuhito Wakasaya, Mitsunori Watanabe, Masahiko Tomiyama, Chieko Suzuki, Mandy Jackson

Intern Med· November 2009

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A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI.
Mitsunori Watanabe, Natsuki Monai, Mandy Jackson, Yukiko Yamamoto-Watanabe, Yoshio Ikeda

Intern Med· October 2009

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