Cargando…

Genetic testing in motor neurone disease

A minority (10%–15%) of cases of amyotrophic lateral sclerosis (ALS), the most common form of motor neurone disease (MND), are currently attributable to pathological variants in a single identifiable gene. With the emergence of new therapies targeting specific genetic subtypes of ALS, there is an in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dharmadasa, Thanuja, Scaber, Jakub, Edmond, Evan, Marsden, Rachael, Thompson, Alexander, Talbot, Kevin, Turner, Martin R
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8938673/ https://www.ncbi.nlm.nih.gov/pubmed/35027459 http://dx.doi.org/10.1136/practneurol-2021-002989

Ejemplares similares

Cortical Excitability across the ALS Clinical Motor Phenotypes
por: Dharmadasa, Thanuja
Publicado: (2021)

Limited value of serum neurofilament light chain in diagnosing amyotrophic lateral sclerosis
por: Davies, Jennifer C, et al.
Publicado: (2023)

Mimics and chameleons in motor neurone disease
por: Turner, Martin R, et al.
Publicado: (2013)

Creatine kinase and prognosis in amyotrophic lateral sclerosis: a literature review and multi-centre cohort analysis
por: Gao, Jiali, et al.
Publicado: (2022)

Amyotrophic lateral sclerosis: the complex path to precision medicine
por: Talbot, Kevin, et al.
Publicado: (2018)

Primary care blood tests show lipid profile changes in pre-symptomatic amyotrophic lateral sclerosis
por: Thompson, Alexander G, et al.
Publicado: (2023)

Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain
por: Thompson, Alexander G., et al.
Publicado: (2022)

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons
por: Vahsen, Björn F., et al.
Publicado: (2022)

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD
por: Dafinca, Ruxandra, et al.
Publicado: (2020)

TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy
por: Turner, Bradley J, et al.
Publicado: (2008)

Functional Biomarkers for Amyotrophic Lateral Sclerosis
por: Huynh, William, et al.
Publicado: (2019)

C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9
por: Vahsen, Björn F., et al.
Publicado: (2023)

Predictive genetic testing for Motor neuron disease: time for a guideline?
por: McNeill, Alisdair, et al.
Publicado: (2022)

Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice
por: Turner, Bradley J., et al.
Publicado: (2014)

Improving clinical trial outcomes in amyotrophic lateral sclerosis
por: Kiernan, Matthew C., et al.
Publicado: (2020)

Utility of threshold tracking transcranial magnetic stimulation in ALS
por: Vucic, Steve, et al.
Publicado: (2018)

Motor cortical excitability predicts cognitive phenotypes in amyotrophic lateral sclerosis
por: Agarwal, Smriti, et al.
Publicado: (2021)

Neurotrophic Properties of C-Terminal Domain of the Heavy Chain of Tetanus Toxin on Motor Neuron Disease
por: Herrando-Grabulosa, Mireia, et al.
Publicado: (2020)

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell‐Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
por: Dafinca, Ruxandra, et al.
Publicado: (2016)

Metabolic Dysfunction in Motor Neuron Disease: Shedding Light through the Lens of Autophagy
por: De Silva, Subhavi, et al.
Publicado: (2022)

Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis
por: Salter, Matthew, et al.
Publicado: (2018)

Diagnosis and Treatment of Lower Motor Neuron Disease in Australian Dogs and Cats
por: Herndon, A. M., et al.
Publicado: (2018)

Efficacy of botulinum toxin type a in the targeted treatment of sleep bruxism: a double-blind, randomised, placebo-controlled, cross-over study
por: Cruse, Belinda, et al.
Publicado: (2022)

Neuroinflammation in motor neuron disease
por: Komine, Okiru, et al.
Publicado: (2015)

A risk stratifying tool to facilitate safe late-stage percutaneous endoscopic gastrostomy in ALS
por: Thompson, Alexander G., et al.
Publicado: (2017)

Multidisciplinary Interventions in Motor Neuron Disease
por: Williams, U. E., et al.
Publicado: (2014)

Disruption of Axonal Transport in Motor Neuron Diseases
por: Ikenaka, Kensuke, et al.
Publicado: (2012)

The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases
por: McCluskey, Gavin, et al.
Publicado: (2022)

Non-Motor Symptoms in Patients Suffering from Motor Neuron Diseases
por: Günther, René, et al.
Publicado: (2016)

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
por: van Blitterswijk, Marka, et al.
Publicado: (2012)

Factors That Influence Non-Motor Impairment Across the ALS-FTD Spectrum: Impact of Phenotype, Sex, Age, Onset and Disease Stage
por: Devenney, Emma M., et al.
Publicado: (2021)

Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis
por: Allen, Scott P, et al.
Publicado: (2019)

Higher blood high density lipoprotein and apolipoprotein A1 levels are associated with reduced risk of developing amyotrophic lateral sclerosis
por: Thompson, Alexander G, et al.
Publicado: (2022)

Rasch analysis of the hospital anxiety and depression scale (hads) for use in motor neurone disease
por: Gibbons, Chris J, et al.
Publicado: (2011)

Assessing social isolation in motor neurone disease: A Rasch analysis of the MND Social Withdrawal Scale()
por: Gibbons, Chris J., et al.
Publicado: (2013)

Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets
por: Gagliardi, Delia, et al.
Publicado: (2022)

Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration
por: Chipika, Rangariroyashe H., et al.
Publicado: (2022)

A systematic review of digital technology to evaluate motor function and disease progression in motor neuron disease
por: Beswick, Emily, et al.
Publicado: (2022)

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population
por: Black, Holly A., et al.
Publicado: (2017)

Heavy metals in locus ceruleus and motor neurons in motor neuron disease
por: Pamphlett, Roger, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_ur0qvjklq7h5gtkou49et0b17h