Mcneill, Alisdair : rechercher sur Z-Library

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1

A systematic review of the gait characteristics associated with Cerebellar Ataxia

Buckley, Ellen, Mazzà, Claudia, McNeill, Alisdair

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.16 MB

english, 2018

2

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

McNeill, Alisdair

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 163 KB

english, 2019

3

Genotype–phenotype correlations in VHL exon deletions

Alisdair McNeill, Eleanor Rattenberry, Richard Barber, Pip Killick, Fiona MacDonald, Eamonn R. Maher

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 112 KB

english, 2009

4

Response to: ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

Alisdair McNeill

Journal:

Movement Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 80 KB

english, 2010

5

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

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

Journal:

Movement Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 852 KB

english, 2012

6

Failure of colonic anastomosis in a patient with colonic scleroderma

Alisdair McNeill

Journal:

International Journal of Colorectal Disease

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

7

Comment on “The codon 129 polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects”

Alisdair McNeill

Journal:

Journal of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 152 KB

english, 2004

8

The neurological examination as taught in 1897 compared with 2002 - from Hutchison's Clinical Methods

Alisdair McNeill

Journal:

Practical Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 44 KB

english, 2005

9

Prion Protein Accumulation and Neuroprotection in Hypoxic Brain Damage

Neil F. McLennan, Paul M. Brennan, Alisdair McNeill, Ioan Davies, Andrew Fotheringham, Kathleen A. Rennison, Diane Ritchie, Francis Brannan, Mark W. Head, James W. Ironside, Alun Williams, Jeanne E. B

Journal:

The American Journal of Pathology

Année:

2004

Langue:

english

Fichier:

PDF, 906 KB

english, 2004

10

[Handbook of Clinical Neurology] Hyperkinetic Movement Disorders Volume 100 || Neurodegeneration with brain iron accumulation

Mcneill, Alisdair

Année:

2011

Langue:

english

Fichier:

PDF, 531 KB

english, 2011

11

Novel pathogenic mutations in the glucocerebrosidase locus

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

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 147 KB

english, 2012

12

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

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

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 266 KB

english, 2013

13

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

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

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 119 KB

english, 2014

14

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

McNeill, Alisdair, Healy, Daniel G., Schapira, Anthony H.V., Taanman, Jan-Willem

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 111 KB

english, 2013

15

Using a case report to teach junior doctors about medical publishing

McNeill, Alisdair, Parkin, Caroline K. E., Rubab, Umme

Journal:

Medical Teacher

Année:

2007

Langue:

english

Fichier:

PDF, 35 KB

english, 2007

16

Clinical diagnosis of cervical dystonia

McNeill, Alisdair, Cano, Stefan, Warner, Thomas T

Journal:

European Journal of General Practice

Année:

2004

Langue:

english

Fichier:

PDF, 205 KB

english, 2004

17

Is elevated beta-hexosaminidase activity a potential biomarker for Parkinson's disease?

McNeill, Alisdair

Journal:

Movement Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 118 KB

english, 2014

18

Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation–Positive Cohort

Beavan, Michelle, McNeill, Alisdair, Proukakis, Christos, Hughes, Derralynn A., Mehta, Atul, Schapira, Anthony H. V.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 236 KB

english, 2015

19

Chorea Induced by Low-Dose Trazodone

McNeill, Alisdair

Journal:

European Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 55 KB

english, 2006

20

The Neurological Presentation of Ceruloplasmin Gene Mutations

McNeill, Alisdair, Pandolfo, Massimo, Kuhn, Jens, Shang, Huifang, Miyajima, Hiroaki

Journal:

European Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 116 KB

english, 2008

21

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation

McNeill, Alisdair, Birchall, Daniel, Straub, Volker, Goldfarb, Lev, Reilich, Peter, Walter, Maggie C., Schramm, Nicolai, Lochm&uuml, ller, Hanns, Chinnery, Patrick F.

Journal:

European Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 196 KB

english, 2009

22

Endoplasmic reticulum and lysosomal Ca2+ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts

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, Anthon

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 2.66 MB

english, 2016

23

Neuroferritinopathy: Update on Clinical Features and Pathogenesis

McNeill, Alisdair, F. Chinnery, Patrick

Journal:

Current Drug Targets

Année:

2012

Langue:

english

Fichier:

PDF, 133 KB

english, 2012

24

Europe PMC Funders Group Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Mcneill, Alisdair, Uk, Mrcp, Duran, Raquel, Proukakis, Christos, Uk, Mrcp, Hughes, Derralyn, Uk, Mrcp, Mehta, Atuhl, Hardy, John, Wood, Nicholas W, Schapira, Anthony H V

Année:

2014

Langue:

english

Fichier:

PDF, 258 KB

english, 2014

25

A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy

Siddique, Azeem, Willoughby, Josh, McNeill, Alisdair

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 138 KB

english, 2017

26

Hyposmia, symptoms of rapid eye movement sleep behavior disorder, and parkinsonian motor signs suggest prodromal neurodegeneration in 22q11 deletion syndrome

Buckley, Ellen, Siddique, Azeem, McNeill, Alisdair

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 136 KB

english, 2017

27

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

Vo, Oanh Kieu, McNeill, Alisdair, Vogt, Katharina Sophie

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2018

28

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

McNeill, Alisdair, Wu, Ruey-Meei, Tzen, Kai-Yuan, Aguiar, Patricia C., Arbelo, Jose M., Barone, Paolo, Bhatia, Kailash, Barsottini, Orlando, Bonifati, Vincenzo, Bostantjopoulou, Sevasti, Bressan, Rodr

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 4.66 MB

english, 2013

29

Are congenital anomalies of the kidney and urinary tract part of the SOX11 syndrome?

McNeill, Alisdair

Journal:

Kidney International

Année:

2018

Langue:

english

Fichier:

PDF, 198 KB

english, 2018

30

Movement disorders in adults with 22q11 deletion syndrome

McNeill, Alisdair

Journal:

Movement Disorders Clinical Practice

Année:

2019

Langue:

english

Fichier:

PDF, 802 KB

english, 2019

31

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers

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

Journal:

Movement Disorders

Année:

2019

Langue:

english

Fichier:

PDF, 296 KB

english, 2019

32

Expression of apolipoprotein-E in human perinatal brain after hypoxic-ischaemic injury

McNeill, Alisdair

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 304 KB

english, 2005

33

Views of adults with 22q11 deletion syndrome on reproductive choices

McNeill, Alisdair, Lewis, Ruth, Freeth, Megan

Journal:

American Journal of Medical Genetics Part A

Année:

2020

Langue:

english

Fichier:

PDF, 583 KB

english, 2020

34

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri,

Journal:

Année:

2020

Fichier:

PDF, 471 KB

2020

35

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

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, T

Journal:

Année:

2020

Fichier:

PDF, 702 KB

2020