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1. Full Text Lysosomal dysfunction in Parkinson’s disease
by McNeill, Alisdair
Brain, ISSN 0006-8950, 04/2015, Volume 138, Issue 4, pp. e339 - e339
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2. Full Text Editorial for Brain Sciences Special Issue: “Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping”
by McNeill, Alisdair
Brain Sciences, ISSN 2076-3425, 03/2019, Volume 9, Issue 3, p. 72
In this Special Issue we bring together papers demonstrating the need for both detailed genomic and phenotypic studies to aid our scientific and clinical... 
Parkinson's disease | Next-generation sequencing | Disease | Phenotyping | Conflicts of interest | Glucosylceramidase | Hypothalamus | Mutation | Gene expression | Movement disorders | n/a
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3. Full Text Are congenital anomalies of the kidney and urinary tract part of the SOX11 syndrome?
by McNeill, Alisdair
Kidney International, ISSN 0085-2538, 10/2018, Volume 94, Issue 4, pp. 826 - 827
UROLOGY & NEPHROLOGY | SOXC Transcription Factors | Urinary Tract | Humans | Kidney | Syndrome
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4. Full Text Editorial for Brain Sciences Special Issue: "Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping"
by McNeill, Alisdair
Brain sciences, ISSN 2076-3425, 03/2019, Volume 9, Issue 3
In this Special Issue we bring together papers demonstrating the need for both detailed genomic and phenotypic studies to aid our scientific and clinical... 
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5. Full Text Is elevated beta‐hexosaminidase activity a potential biomarker for Parkinson's disease?
by McNeill, Alisdair
Movement Disorders, ISSN 0885-3185, 09/2014, Volume 29, Issue 10, pp. 1328 - 1329
GLUCOCEREBROSIDASE | CLINICAL NEUROLOGY | Female | Male | Glycoside Hydrolases - cerebrospinal fluid | alpha-Synuclein - cerebrospinal fluid | Humans | Parkinson Disease - cerebrospinal fluid
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6. Full Text Lysosomal dysfunction in Parkinson's disease
by McNeill, Alisdair
Brain, ISSN 0006-8950, 04/2015, Volume 138, Issue 4, pp. e339 - U37
GLUCOCEREBROSIDASE | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | alpha-Synuclein - biosynthesis | Humans | Up-Regulation - physiology | Female | Male | Parkinson Disease - metabolism | Glucosylceramidase - antagonists & inhibitors
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7. PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation
by McNeill, Alisdair
Current Drug Targets, ISSN 1389-4501, 08/2012, Volume 13, Issue 9, pp. 1204 - 1206
There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging.... 
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8. PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation
by McNeill, A
CURRENT DRUG TARGETS, ISSN 1389-4501, 08/2012, Volume 13, Issue 9, pp. 1204 - 1206
There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging.... 
PARKINSONISM | MITOCHONDRIAL | c19orf2 | NBIA | PLA2G6 | DEFICIENCY | FA2H | MULTIPLE-SCLEROSIS | P-TYPE ATPASE | DISEASE | ATP13A2 MUTATIONS | PHARMACOLOGY & PHARMACY | KUFOR-RAKEB SYNDROME | DYSFUNCTION | SPECTRUM
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9. Full Text Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
by Alexandria Beilina and Iakov N. Rudenko and Alice Kaganovich and Laura Civiero and Hien Chau and Suneil K. Kalia and Lorraine V. Kalia and Evy Lobbestael and Ruth Chia and Kelechi Ndukwe and Jinhui Ding and Mike A. Nalls and Maciej Olszewski and David N. Hauser and Ravindran Kumaran and Andres M. Lozano and Veerle Baekelandt and Lois E. Greene and Jean-Marc Taymans and Elisa Greggio and Mark R. Cookson and North Amer Brain Expression Consor and Int Parkinson's Dis Genomics Conso and International Parkinson’s Disease Genomics Consortium and North American Brain Expression Consortium and International Parkinson's Disease Genomics Consortium
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2014, Volume 111, Issue 7, pp. 2626 - 2631
Mutations in leucine-rich repeat kinase 2 (LRRK2) cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for sporadic PD.... 
Proteins | Neurites | Transfection | Neurons | Medical genetics | Parkinson disease | Disease risk | Genetic loci | Gene expression regulation | Genetic mutation | GAK | Trans-Golgi | BAG5 | Autophagy | RECRUITMENT | autophagy | PROTEIN | VARIANTS | LRRK2 | MULTIDISCIPLINARY SCIENCES | SEQUENCE | trans-Golgi | CLATHRIN | Cell Fractionation | Immunoprecipitation | Humans | Genetic Loci - genetics | Multiprotein Complexes - genetics | DNA Primers - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Brain - metabolism | Multiprotein Complexes - metabolism | Mass Spectrometry | HEK293 Cells | Plasmids - genetics | Golgi Apparatus - ultrastructure | Protein-Serine-Threonine Kinases - metabolism | rab GTP-Binding Proteins - metabolism | Genetic Predisposition to Disease - genetics | Protein-Serine-Threonine Kinases - genetics | Blotting, Western | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Microscopy, Confocal | Protein Interaction Mapping - methods | Analysis of Variance | Transport Vesicles - metabolism | Parkinson Disease - enzymology | Adaptor Proteins, Signal Transducing - metabolism | Genome-Wide Association Study - methods | Genetic aspects | Parkinson's disease | Leucine | Gene mutations | Health aspects | Phosphotransferases | Biological Sciences
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10. Full Text Response to: ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
by McNeill, Alisdair
Movement Disorders, ISSN 0885-3185, 10/2010, Volume 25, Issue 13, pp. 2253 - 2253
CLINICAL NEUROLOGY | Brain - metabolism | Proton-Translocating ATPases - genetics | Humans | Nerve Degeneration - genetics | Mutation - genetics | Nerve Degeneration - etiology | Iron - metabolism | Nerve Degeneration - pathology
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11. Full Text A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy
by Siddique, Azeem and Willoughby, Josh and McNeill, Alisdair and DDD Study
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1128 - 1130
GENETICS & HEREDITY | Chromosome Deletion | Haploinsufficiency - genetics | Cytoskeletal Proteins - genetics | Humans | Child, Preschool | Male | Epilepsy - physiopathology | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Comparative Genomic Hybridization | Hepatocyte Growth Factor - genetics | Epilepsy - genetics | Polymorphism, Single Nucleotide | Mutation | Neuropeptides - genetics | Chromosomes, Human, Pair 7 - genetics | Calcium Channels - genetics | Epilepsy
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12. Full Text Evolution and clustering of prodromal parkinsonian features in GBA1 carriers
by Mullin, Stephen and Beavan, Michelle and Bestwick, Jonathan and McNeill, Alisdair and Proukakis, Christos and Cox, Timothy and Hughes, Derralynn and Mehta, Atul and Zetterberg, Henrik and Schapira, Anthony H.V
Movement Disorders, ISSN 0885-3185, 09/2019, Volume 34, Issue 9, pp. 1365 - 1373
Background Five to 25% of patients with PD carry glucocerebrosidase gene mutations, and 10% to 30% of glucocerebrosidase carriers will develop PD by age 80.... 
Parkinson's | Gaucher | cognition | olfaction | depression | prodromal | glucocerebrosidase | Confidence intervals | Basal ganglia | Parkinson's disease | Cognitive ability | Olfaction | Central nervous system diseases | Glucosylceramidase | Diagnosis | Mutation | Movement disorders
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13. Full Text A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
by McNeill, Alisdair and Duran, Raquel and Hughes, Derralynn A and Mehta, Atul and Schapira, Anthony H V
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2012, Volume 83, Issue 8, pp. 853 - 854
  Each participant had the following administered: 40 item smell identification test (SIT), Montreal Cognitive assessment (MoCA), Parts I-IV of Unified... 
SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY | Glucosylceramidase - genetics | Humans | Middle Aged | Kaplan-Meier Estimate | Male | Parkinson Disease - genetics | Mutation - genetics | Case-Control Studies | Aged, 80 and over | Family | Female | Heterozygote | Aged | Studies | Pathology | Parents & parenting | Sleep | Cognitive ability | Parkinsons disease | Mutation | Family medical history | Patients | Age | non-motor | Parkinson's disease | genetics | neurogenetics | medicine | movement disorders | olfactory dysfunction | 1506 | glucocerebrosidase | PostScript | Lewy body
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14. Full Text A systematic review of the gait characteristics associated with Cerebellar Ataxia
by Buckley, Ellen and Mazzà, Claudia and McNeill, Alisdair
Gait & Posture, ISSN 0966-6362, 02/2018, Volume 60, pp. 154 - 163
Cerebellar Ataxias are a group of gait disorders resulting from dysfunction of the cerebellum, commonly characterised by slowly progressing incoordination that... 
Systematic review | Cerebellar ataxia | Gait analysis | Meta-analysis | DYNAMIC STABILITY | SPORT SCIENCES | WALKING | FRIEDREICHS-ATAXIA | OLDER-ADULTS | NEUROLOGICAL DISORDERS | PARAMETERS | NEUROSCIENCES | VARIABILITY | TESTING PROTOCOL | ORTHOPEDICS | HUNTINGTONS-DISEASE | PARKINSONS-DISEASE | Walking Speed | Gait - physiology | Gait Disorders, Neurologic - physiopathology | Humans | Gait Ataxia - physiopathology | Walking - physiology | Walking | Development and progression | Neurosciences | Analysis
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15. Full Text The Neurological Presentation of Ceruloplasmin Gene Mutations
by McNeill, Alisdair and Pandolfo, Massimo and Kuhn, Jens and Shang, Huifang and Miyajima, Hiroaki
European Neurology, ISSN 0014-3022, 09/2008, Volume 60, Issue 4, pp. 200 - 205
Aceruloplasminemia is an autosomal recessive disorder of iron metabolism resulting from mutations of the ceruloplasmin gene. To better define the neurological... 
Review | Ceruloplasmin | Retinal degeneration | Ataxia | Autosomal recessive | Aceruloplasminemia | Dementia | ceruloplasmin | retinal degeneration | HEMOSIDEROSIS | IRON OVERLOAD | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | aceruloplasminemia | DIABETES-MELLITUS | ataxia | MOVEMENT-DISORDER | DISEASE | dementia | PATIENT | autosomal recessive | BRAIN IRON | Metal Metabolism, Inborn Errors - genetics | Humans | Middle Aged | Male | Nervous System Diseases - genetics | Ceruloplasmin - genetics | Iron Metabolism Disorders - physiopathology | Iron Metabolism Disorders - genetics | Adolescent | Age of Onset | Adult | Female | Aged | Nervous System Diseases - physiopathology | Mutation | Metal Metabolism, Inborn Errors - physiopathology
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16. Full Text Hyposmia and cognitive impairment in Gaucher disease patients and carriers
by McNeill, Alisdair and Duran, Raquel and Proukakis, Christos and Bras, Jose and Hughes, Derralyn and Mehta, Atuhl and Hardy, John and Wood, Nicholas W and Schapira, Anthony H.V
Movement Disorders, ISSN 0885-3185, 04/2012, Volume 27, Issue 4, pp. 526 - 532
The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early... 
Parkinson's disease | genetics | olfactory dysfunction | cognitive dysfunction | Genetics | Olfactory dysfunction | Cognitive dysfunction | PARKINSON DISEASE | RISK | DYSFUNCTION | GLUCOCEREBROSIDASE MUTATIONS | CLINICAL NEUROLOGY | Olfaction Disorders - genetics | Severity of Illness Index | Glucosylceramidase - genetics | Humans | Middle Aged | Male | Cognition Disorders - genetics | Olfaction Disorders - diagnosis | Statistics as Topic | Gaucher Disease - complications | Mutation - genetics | Case-Control Studies | Odorants | Neuropsychological Tests | Cognition Disorders - diagnosis | Smell - physiology | Gaucher Disease - genetics | Cognition Disorders - etiology | Statistics, Nonparametric | Aged, 80 and over | Female | Aged | Olfaction Disorders - etiology | Sleep disorders | Neurosciences | Disease transmission | Sleep | Parkinson’s disease
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17. PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation
by McNeill, Alisdair
Current drug targets, 08/2012, Volume 13, Issue 9, p. 1204
There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging.... 
Brain - metabolism | Group VI Phospholipases A2 - genetics | Humans | Neurodegenerative Diseases - genetics | Mutation | Iron - metabolism
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18. Full Text The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review
by Vo, Oanh Kieu and McNeill, Alisdair and Vogt, Katharina Sophie
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2018, Volume 176, Issue 10, pp. 2215 - 2225
The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects... 
22q11 deletion syndrome | psychosocial | quality of life | systematic review | DIAGNOSIS | PARENTS | ILLNESS | DEVELOPMENTAL-DISABILITIES | CHILDREN | EXPERIENCES | GENETICS & HEREDITY | INTELLECTUAL DISABILITIES | HEALTH-CARE | STRESS | CARDIO-FACIAL SYNDROME | Literature reviews | Systematic review | Diagnosis | Clonal deletion | Morbidity | Original
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19. Full Text Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation–Positive Cohort
by Beavan, Michelle and McNeill, Alisdair and Proukakis, Christos and Hughes, Derralynn A and Mehta, Atul and Schapira, Anthony H. V
JAMA Neurology, ISSN 2168-6149, 02/2015, Volume 72, Issue 2, pp. 201 - 208
IMPORTANCE: Numerically, the most important genetic risk factor for the development of Parkinson disease (PD) is the presence of a glucocerebrosidase gene... 
DIAGNOSIS | MULTICENTER | COMPLAINTS | DEMENTIA | NONMOTOR SYMPTOMS | COGNITIVE IMPAIRMENT | GLUCOCEREBROSIDASE MUTATIONS | CARRIERS | LEWY BODIES | CLINICAL NEUROLOGY | GAUCHER-DISEASE | Severity of Illness Index | Glucosylceramidase - genetics | Humans | Middle Aged | Male | Parkinson Disease - genetics | Prodromal Symptoms | Mutation - genetics | Parkinson Disease - physiopathology | Disease Progression | Gaucher Disease - genetics | Biomarkers | Female | Gaucher Disease - physiopathology | Heterozygote | Aged | Longitudinal Studies
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20. Full Text Neurodegeneration with brain iron accumulation
by Mcneill, Alisdair and Chinnery, Patrick F
2011, ISBN 9780444520142, Volume 100
Neurodegenerative disorders with brain iron accumulation (NBIA) are a clinically and genetically heterogeneous group of conditions in which there is... 
Ceruloplasmin - deficiency | Neuroaxonal Dystrophies - diagnosis | Neurodegenerative Diseases - pathology | Pantothenate Kinase-Associated Neurodegeneration - metabolism | Iron Metabolism Disorders - diagnosis | Humans | Magnetic Resonance Imaging - methods | Neurodegenerative Diseases - diagnosis | Neurodegenerative Diseases - genetics | Neurodegenerative Diseases - metabolism | Neuroaxonal Dystrophies - genetics | Iron - metabolism | Brain - metabolism | Pantothenate Kinase-Associated Neurodegeneration - diagnosis | Ceruloplasmin - genetics | Iron Metabolism Disorders - genetics | Pantothenate Kinase-Associated Neurodegeneration - genetics | Neuroaxonal Dystrophies - metabolism | Brain - pathology | Ceruloplasmin - metabolism | Iron Metabolism Disorders - metabolism
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