Machado-Joseph Disease: from first descriptions to new perspectives

由 Bettencourt, Conceição, Lima, Manuela
出版 2011

Multiple system atrophy: genetic risks and alpha-synuclein mutations

由 Whittaker, Heather T, Qui, Yichen, Bettencourt, Conceição, Houlden, Henry
發表在 F1000Res (2017)

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

由 Efthymiou, Stephanie, Salpietro, Vincenzo, Bettencourt, Conceicao, Houlden, Henry
發表在 J Pediatr Genet (2018)

Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

由 Gang, Qiang, Bettencourt, Conceição, Machado, Pedro, Hanna, Michael G, Houlden, Henry
出版 2014

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

由 Wiethoff, Sarah, Hersheson, Joshua, Bettencourt, Conceicao, Wood, Nicholas W., Houlden, Henry
發表在 J Neurol (2016)

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

由 Bettencourt, Conceição, Morris, Huw R., Singleton, Andrew B., Hardy, John, Houlden, Henry
出版 2013

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

由 Raposo, Mafalda, Vasconcelos, João, Bettencourt, Conceição, Kay, Teresa, Coutinho, Paula, Lima, Manuela
出版 2014

The (CAG)(n) tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls

由 Bettencourt, Conceição, Santos, Cristina, Montiel, Rafael, Kay, Teresa, Vasconcelos, João, Maciel, Patrícia, Lima, Manuela
出版 2010

Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia

由 Bettencourt, Conceição, Ryten, Mina, Forabosco, Paola, Schorge, Stephanie, Hersheson, Joshua, Hardy, John, Houlden, Henry
發表在 JAMA Neurol (2014)

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

由 Verma, Amrita, Ebanks, Kirsten, Fok, Chi-Yee, Lewis, Patrick A., Bettencourt, Conceicao, Bandopadhyay, Rina
發表在 Brain Res (2021)

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

由 Fullerton, Josie, Bettencourt, Conceicao, Daniels, Michael, Mclean, Fiona, Simpson, Susan, Smith, Adam, Woodling, Nathan, Kerr, Fiona
發表在 AMRC Open Res (2023)

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

由 Wiethoff, Sarah, O’Connor, Emer, Haridy, Nourelhoda A, Nethisinghe, Suran, Wood, Nicholas, Giunti, Paola, Bettencourt, Conceição, Houlden, Henry
發表在 J Neurol Neurosurg Psychiatry (2018)

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

由 Schottlaender, Lucia V., Bettencourt, Conceição, Kiely, Aoife P., Chalasani, Annapurna, Neergheen, Viruna, Holton, Janice L., Hargreaves, Iain, Houlden, Henry
發表在 PLoS One (2016)

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

由 Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry
發表在 Cerebellum (2016)

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

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

Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation

由 Gonzalez, Carlos, Gomes, Elisabete, Kazachkova, Nadiya, Bettencourt, Conceição, Raposo, Mafalda, Kay, Teresa Taylor, MacLeod, Patrick, Vasconcelos, João, Lima, Manuela
出版 2012

Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene

由 Praschberger, Roman, Balint, Bettina, Mencacci, Niccolo E., Hersheson, Joshua, Rubio‐Agusti, Ignacio, Kullmann, Dimitri M., Bettencourt, Conceição, Bhatia, Kailash, Houlden, Henry
發表在 Mov Disord Clin Pract (2015)

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

由 Gang, Qiang, Bettencourt, Conceição, Holton, Janice, Lovejoy, Christopher, Chelban, Viorica, Oconnor, Emer, Yuan, Yun, Reilly, Mary M., Hanna, Michael, Houlden, Henry
發表在 J Neurol (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

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

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia

由 Yau, Wai Yan, Raposo, Mafalda, Bettencourt, Conceição, Labrum, Robyn, Vasconcelos, João, Parkinson, Michael H, Giunti, Paola, Wood, Nicholas W, Lima, Manuela, Houlden, Henry
發表在 Brain (2020)