Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome

por Nalini, Atchayaram, Pandraud, Amelie, Mok, Kin, Houlden, Henry
Publicado 2013

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients

por Mok, Kin Y., Koutsis, Georgios, Schottlaender, Lucia V., Polke, James, Panas, Marios, Houlden, Henry
Publicado 2012

Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome

por Jones, Emma L., Mok, Kin, Hanney, Marisa, Harold, Denise, Sims, Rebecca, Williams, Julie, Ballard, Clive
Publicado 2013

Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome

por Startin, Carla M., Hamburg, Sarah, Hithersay, Rosalyn, Al-Janabi, Tamara, Mok, Kin Y., Hardy, John, Strydom, Andre
Publicado 2019

Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome()

por Mok, Kin Y., Jones, Emma L., Hanney, Marisa, Harold, Denise, Sims, Rebecca, Williams, Julie, Ballard, Clive, Hardy, John
Publicado 2014

Erratum to “Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome” [Neurobiol. Aging 35 (2014) 1513.e1–1513.e5]

por Mok, Kin Y., Jones, Emma L., Hanney, Marisa, Harold, Denise, Sims, Rebecca, Williams, Julie, Ballard, Clive, Hardy, John
Publicado 2014

Erratum to “Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome” [Neurobiol. Aging 35 (2014) 1513.e1–1513.e5]

por Mok, Kin Y., Jones, Emma L., Hanney, Marisa, Harold, Denise, Sims, Rebecca, Williams, Julie, Ballard, Clive, Hardy, John
Publicado 2014

Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome

por Strydom, Andre, Heslegrave, Amanda, Startin, Carla M., Mok, Kin Y., Hardy, John, Groet, Jurgen, Nizetic, Dean, Zetterberg, Henrik
Publicado 2018

Behavioral Variant Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis with a Chromosome 9p21 Hexanucleotide Repeat

por Friedland, Robert P., Shah, Jignesh J., Farrer, Lindsay A., Vardarajan, Badri, Rebolledo-Mendez, Jovan D., Mok, Kin, Hardy, John
Publicado 2012

A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma

por Kero, Mia, Ferrari, Raffaele, Mok, Kin, Paetau, Anders, Tienari, Pentti J, Tynninen, Olli, Hardy, John, Momeni, Parastoo, Verkkoniemi-Ahola, Auli, Myllykangas, Liisa
Publicado 2013

Editorial: Genetic and molecular diversity in Parkinson's disease

por Abdul Murad, Nor Azian, Sulaiman, Siti Aishah, Ahmad-Annuar, Azlina, Mohamed Ibrahim, Norlinah, Mohamed, Wael, Md Rani, Shahrul Azmin, Mok, Kin Ying
Publicado 2022

Aging related cognitive changes associated with Alzheimer's disease in Down syndrome

por Firth, Nicholas C., Startin, Carla M., Hithersay, Rosalyn, Hamburg, Sarah, Wijeratne, Peter A., Mok, Kin Y., Hardy, John, Alexander, Daniel C., Strydom, André
Publicado 2018

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

por Mok, Kin Y, Schneider, Susanne A, Trabzuni, Daniah, Stamelou, Maria, Edwards, Mark, Kasperaviciute, Dalia, Pickering-Brown, Stuart, Silverdale, Monty, Hardy, John, Bhatia, Kailash P
Publicado 2014

Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years

por Hithersay, Rosalyn, Startin, Carla M., Hamburg, Sarah, Mok, Kin Y., Hardy, John, Fisher, Elizabeth M. C., Tybulewicz, Victor L. J., Nizetic, Dean, Strydom, André
Publicado 2018

A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment

por Thomas, Michael S.C., Ojinaga Alfageme, Olatz, D’Souza, Hana, Patkee, Prachi A., Rutherford, Mary A., Mok, Kin Y., Hardy, John, Karmiloff-Smith, Annette
Publicado 2020

Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome

por D’Souza, Hana, Mason, Luke, Mok, Kin Y., Startin, Carla M., Hamburg, Sarah, Hithersay, Rosalyn, Baksh, R. Asaad, Hardy, John, Strydom, Andre, Thomas, Michael S. C.
Publicado 2020

Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis

por Zhou, Xiaopu, Chen, Yu, Mok, Kin Y., Zhao, Qianhua, Chen, Keliang, Chen, Yuewen, Hardy, John, Li, Yun, Fu, Amy K. Y., Guo, Qihao, Ip, Nancy Y.
Publicado 2018

The importance of understanding individual differences in Down syndrome

por Karmiloff-Smith, Annette, Al-Janabi, Tamara, D'Souza, Hana, Groet, Jurgen, Massand, Esha, Mok, Kin, Startin, Carla, Fisher, Elizabeth, Hardy, John, Nizetic, Dean, Tybulewicz, Victor, Strydom, Andre
Publicado 2016

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

por Plagnol, Vincent, Curtis, James, Epstein, Michael, Mok, Kin Y., Stebbings, Emma, Grigoriadou, Sofia, Wood, Nicholas W., Hambleton, Sophie, Burns, Siobhan O., Thrasher, Adrian J., Kumararatne, Dinakantha, Doffinger, Rainer, Nejentsev, Sergey
Publicado 2012

Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer’s disease

por Startin, Carla M., Ashton, Nicholas J., Hamburg, Sarah, Hithersay, Rosalyn, Wiseman, Frances K., Mok, Kin Y., Hardy, John, Lleó, Alberto, Lovestone, Simon, Parnetti, Lucilla, Zetterberg, Henrik, Hye, Abdul, Strydom, André
Publicado 2019