Editorial for Brain Sciences Special Issue: “Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping”

por McNeill, Alisdair
Publicado 2019

Clinical genomics—but faster

por McNeill, Alisdair
Publicado 2021

A new impact factor for European Journal of Human Genetics

por McNeill, Alisdair
Publicado 2021

Comment on: Bi-allelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

por McNeill, Alisdair
Publicado 2021

A qualitative interview study of the attitudes toward reproductive options of people with genetic visual loss

por Redgrave, Sophie, McNeill, Alisdair
Publicado 2022

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review

por Vo, Oanh Kieu, McNeill, Alisdair, Vogt, Katharina Sophie
Publicado 2018

The Effectiveness of Physiotherapy Interventions for Mobility in Severe Multiple Sclerosis: A Systematic Review and Meta-Analysis

por Binshalan, Tarub, Nair, Krishnan Padmakumari Sivaraman, McNeill, Alisdair
Publicado 2022

A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers

por McNeill, Alisdair, Duran, Raquel, Hughes, Derralynn A, Mehta, Atul, Schapira, Anthony H V
Publicado 2012

Novel pathogenic mutations in the glucocerebrosidase locus

por Duran, Raquel, McNeill, Alisdair, Mehta, Atul, Hughes, Derralyn, Cox, Timothy, Deegan, Patrick, Schapira, Anthony H.V., Hardy, John
Publicado 2012

Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study()()

por McNeill, Alisdair, Roberti, Gloria, Lascaratos, Gerassimos, Hughes, Derralynn, Mehta, Atul, Garway-Heath, David F., Schapira, Anthony H.V.
Publicado 2013

Corrigendum to “Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study” [Mol. Genet. Metab. 109 (2013) 221–223]

por McNeill, Alisdair, Roberti, Gloria, Lascaratos, Gerassimos, Hughes, Derralynn, Mehta, Atul, Garway-Heath, David F., Schapira, Anthony H.V.
Publicado 2014

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

por McNeill, Alisdair, Duran, Raquel, Proukakis, Christos, Bras, Jose, Hughes, Derralyn, Mehta, Atuhl, Hardy, John, Wood, Nicholas W., Schapira, Anthony H.V.
Publicado 2012

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers

por Mullin, Stephen, Beavan, Michelle, Bestwick, Jonathan, McNeill, Alisdair, Proukakis, Christos, Cox, Timothy, Hughes, Derralynn, Mehta, Atul, Zetterberg, Henrik, Schapira, Anthony H.V.
Publicado 2019

Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease

por Zokaei, Nahid, McNeill, Alisdair, Proukakis, Christos, Beavan, Michelle, Jarman, Paul, Korlipara, Prasad, Hughes, Derralynn, Mehta, Atul, Hu, Michele T. M., Schapira, Anthony H. V., Husain, Masud
Publicado 2014

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

por McNeill, Alisdair, Magalhaes, Joana, Shen, Chengguo, Chau, Kai-Yin, Hughes, Derralyn, Mehta, Atul, Foltynie, Tom, Cooper, J. Mark, Abramov, Andrey Y., Gegg, Matthew, Schapira, Anthony H.V.
Publicado 2014

Endoplasmic reticulum and lysosomal Ca(2+) stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts

por Kilpatrick, Bethan S., Magalhaes, Joana, Beavan, Michelle S., McNeill, Alisdair, Gegg, Matthew E., Cleeter, Michael W.J., Bloor-Young, Duncan, Churchill, Grant C., Duchen, Michael R., Schapira, Anthony H., Patel, Sandip
Publicado 2016

Ursodeoxycholic acid as a novel disease-modifying treatment for Parkinson’s disease: protocol for a two-centre, randomised, double-blind, placebo-controlled trial, The 'UP' study

por Payne, Thomas, Sassani, Matilde, Buckley, Ellen, Moll, Sarah, Anton, Adriana, Appleby, Matthew, Maru, Seema, Taylor, Rosie, McNeill, Alisdair, Hoggard, N, Mazza, Claudia, Wilkinson, Iain D, Jenkins, Thomas, Foltynie, Thomas, Bandmann, O
Publicado 2020

Predictive genetic testing for Motor neuron disease: time for a guideline?

por McNeill, Alisdair, Amador, Maria-del-Mar, Bekker, Hilary, Clarke, Angus, Crook, Ashley, Cummings, Cathy, McEwen, Alison, McDermott, Christopher, Quarrell, Oliver, Renieri, Alessandra, Roggenbuck, Jennifer, Salmon, Kristiana, Volk, Alexander, Weishaupt, Jochen
Publicado 2022

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

por Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M., Thompson, Michelle L., Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia, Vogt, Julie, Turnpenny, Peter, Williamson, Michael P., Alembik, Yves, Glasgow, Eric, McNeill, Alisdair
Publicado 2017

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

por Hempel, Annmarie, Pagnamenta, Alistair T, Blyth, Moira, Mansour, Sahar, McConnell, Vivienne, Kou, Ikuyo, Ikegawa, Shiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Lo-Castro, Adriana, Plessis, Ghislaine, Albrecht, Beate, Battaglia, Agatino, Taylor, Jenny C, Howard, Malcolm F, Keays, David, Sohal, Aman Singh, Kühl, Susanne J, Kini, Usha, McNeill, Alisdair
Publicado 2016