Machado-Joseph Disease: from first descriptions to new perspectives

por Bettencourt, Conceição, Lima, Manuela
Publicado 2011

Multiple system atrophy: genetic risks and alpha-synuclein mutations

por Whittaker, Heather T, Qui, Yichen, Bettencourt, Conceição, Houlden, Henry
Publicado 2017

The contribution of DNA methylation to the (dys)function of oligodendroglia in neurodegeneration

por Fodder, Katherine, de Silva, Rohan, Warner, Thomas T., Bettencourt, Conceição
Publicado 2023

Neurodegenerative movement disorders: An epigenetics perspective and promise for the future

por Murthy, Megha, Cheng, Yun Yung, Holton, Janice L., Bettencourt, Conceição
Publicado 2021

Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

por Gang, Qiang, Bettencourt, Conceição, Machado, Pedro, Hanna, Michael G, Houlden, Henry
Publicado 2014

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations

por Wiethoff, Sarah, Hersheson, Joshua, Bettencourt, Conceicao, Wood, Nicholas W., Houlden, Henry
Publicado 2016

Epigenetic Age Acceleration in Frontotemporal Lobar Degeneration: A Comprehensive Analysis in the Blood and Brain

por Murthy, Megha, Rizzu, Patrizia, Heutink, Peter, Mill, Jonathan, Lashley, Tammaryn, Bettencourt, Conceição
Publicado 2023

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

por Bettencourt, Conceição, Morris, Huw R., Singleton, Andrew B., Hardy, John, Houlden, Henry
Publicado 2013

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3)

por Raposo, Mafalda, Vasconcelos, João, Bettencourt, Conceição, Kay, Teresa, Coutinho, Paula, Lima, Manuela
Publicado 2014

In silico comparative analysis of LRRK2 interactomes from brain, kidney and lung

por Verma, Amrita, Ebanks, Kirsten, Fok, Chi-Yee, Lewis, Patrick A., Bettencourt, Conceicao, Bandopadhyay, Rina
Publicado 2021

Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue

por Murthy, Megha, Shireby, Gemma, Miki, Yasuo, Viré, Emmanuelle, Lashley, Tammaryn, Warner, Thomas T., Mill, Jonathan, Bettencourt, Conceição
Publicado 2023

Creating connections: developing an online space for cross-regional mentorship and network building in the dementia research field

por Fullerton, Josie, Bettencourt, Conceicao, Daniels, Michael, Mclean, Fiona, Simpson, Susan, Smith, Adam, Woodling, Nathan, Kerr, Fiona
Publicado 2023

Epigenome-wide association study of peripheral immune cell populations in Parkinson’s disease

por Andersen, Maren Stolp, Leikfoss, Ingvild Sørum, Brorson, Ina Skaara, Cappelletti, Chiara, Bettencourt, Conceicao, Toft, Mathias, Pihlstrøm, Lasse
Publicado 2023

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset

por Wiethoff, Sarah, O’Connor, Emer, Haridy, Nourelhoda A, Nethisinghe, Suran, Wood, Nicholas, Giunti, Paola, Bettencourt, Conceição, Houlden, Henry
Publicado 2018

Editorial: Human brain banking – Bridging brain health and precision neurology

por Huang, Yue, Li, Qiao-Xin, Cao, Ling-Xiao, Wang, Gang, Chan, Daniel Kam Yin, Bettencourt, Conceicao, Milward, Adrienne E.
Publicado 2023

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients

por Schottlaender, Lucia V., Bettencourt, Conceição, Kiely, Aoife P., Chalasani, Annapurna, Neergheen, Viruna, Holton, Janice L., Hargreaves, Iain, Houlden, Henry
Publicado 2016

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

por Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry
Publicado 2016

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

por Bettencourt, Conceição, Santos, Cristina, Coutinho, Paula, Rizzu, Patrizia, Vasconcelos, João, Kay, Teresa, Cymbron, Teresa, Raposo, Mafalda, Heutink, Peter, Lima, Manuela
Publicado 2011

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres

por Gang, Qiang, Bettencourt, Conceição, Holton, Janice, Lovejoy, Christopher, Chelban, Viorica, Oconnor, Emer, Yuan, Yun, Reilly, Mary M., Hanna, Michael, Houlden, Henry
Publicado 2020

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis

por Wiethoff, Sarah, Xiromerisiou, Georgia, Bettencourt, Conceição, Kioumi, Anna, Tsiptsios, Iakovos, Tychalas, Athanasios, Evaggelia, Markousi, George, Kaltsounis, Makris, Vasileios, Hardy, John, Houlden, Henry
Publicado 2014