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1. 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
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Index Medicus
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2. Full Text Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping
by McNeill, Alisdair
01/2019, ISBN 9783039216116
polymicrogyria | n/a | neurodegenerative disease | next generation sequencing (NGS) | inborn error of metabolism | genetic biomarker | deep learning | TUBA1A | Alzheimer’s disease (AD) | ataxia | risk prediction | movement science | tubulin | R2H | diagnosis | machine learning | metal storage disorders | amyotrophic lateral sclerosis (ALS) | glucocerebrosidase | Parkinsonism | cerebellar hypoplasia | Gaucher disease | disease phenotyping | tubulinopathy | Arg2His | Parkinson’s disease (PD) | dementia | Parkinson’s disease
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3. 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
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Female | Male | Glycoside Hydrolases - cerebrospinal fluid | alpha-Synuclein - cerebrospinal fluid | Humans | Parkinson Disease - cerebrospinal fluid | Index Medicus
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4. Full Text Lysosomal dysfunction in Parkinson's disease
by McNeill, Alisdair
Brain (London, England : 1878), ISSN 0006-8950, 04/2015, Volume 138, Issue 4, pp. e339 - U37
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | alpha-Synuclein - biosynthesis | Humans | Up-Regulation - physiology | Female | Male | Parkinson Disease - metabolism | Glucosylceramidase - antagonists & inhibitors | Index Medicus | Abridged Index Medicus
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5. 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
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Parkinson's disease | Next-generation sequencing | Disease | Phenotyping | Conflicts of interest | Glucosylceramidase | Hypothalamus | Mutation | Gene expression | Movement disorders | n/a
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6. PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation
by McNeill, Alisdair
Current drug targets, ISSN 1389-4501, 2012, Volume 13, Issue 9, pp. 1204 - 1206
NBIA | FA2H | PLA2G6 | c19orf2 | Life Sciences & Biomedicine | Pharmacology & Pharmacy | Science & Technology | Brain - metabolism | Neurodegenerative Diseases - genetics | Mutation | Group VI Phospholipases A2 - genetics | Iron - metabolism | Humans
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7. Full Text Movement Disorders in Adults with 22q11 Deletion Syndrome
by McNeill, Alisdair
Movement disorders clinical practice (Hoboken, N.J.), ISSN 2330-1619, 04/2019, Volume 6, Issue 4, pp. 339 - 339
22q11 deletion syndrome | Parkinson's disease
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8. Full Text Views of adults with 22q11 deletion syndrome on reproductive choices
by McNeill, Alisdair and Lewis, Ruth and Freeth, Megan
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2020, Volume 182, Issue 5, pp. 1284 - 1287
prenatal diagnosis | 22q11 deletion syndrome | preimplantation genetic diagnosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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9. 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
Systematic review | Cerebellar ataxia | Gait analysis | Meta-analysis | Neurosciences | Sport Sciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Orthopedics | Science & Technology | Walking Speed | Gait - physiology | Gait Disorders, Neurologic - physiopathology | Humans | Gait Ataxia - physiopathology | Walking - physiology | Walking | Development and progression | Analysis | Index Medicus
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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 | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - metabolism | Proton-Translocating ATPases - genetics | Humans | Nerve Degeneration - genetics | Mutation - genetics | Nerve Degeneration - etiology | Iron - metabolism | Nerve Degeneration - pathology | Index Medicus
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11. Full Text Hyposmia, symptoms of rapid eye movement sleep behavior disorder, and parkinsonian motor signs suggest prodromal neurodegeneration in 22q11 deletion syndrome
by Buckley, Ellen and Siddique, Azeem and McNeill, Alisdair
Neuroreport, ISSN 0959-4965, 08/2017, Volume 28, Issue 11, pp. 677 - 681
22q11 deletion syndrome | movement disorder | Parkinson's disease | hyposmia | REM sleep behavior disorder | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Parkinson Disease - complications | Eye Movements - physiology | Humans | Middle Aged | Risk Factors | Male | Parkinson Disease - genetics | Prodromal Symptoms | 22q11 Deletion Syndrome - genetics | REM Sleep Behavior Disorder - genetics | Neuropsychological Tests | Young Adult | REM Sleep Behavior Disorder - physiopathology | Adolescent | Adult | Female | Longitudinal Studies | REM Sleep Behavior Disorder - diagnosis | Index Medicus
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12. 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
22q11 deletion syndrome | psychosocial | quality of life | systematic review | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Family - psychology | Caregivers - psychology | Humans | Female | Male | DiGeorge Syndrome - psychology | DiGeorge Syndrome - genetics | Emotions | Literature reviews | Systematic review | Diagnosis | Morbidity | Index Medicus | Original
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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 and psychiatry, ISSN 0022-3050, 08/2012, Volume 83, Issue 8, pp. 853 - 854
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | 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 | Index Medicus | non-motor | Parkinson's disease | genetics | neurogenetics | medicine | movement disorders | olfactory dysfunction | 1506 | glucocerebrosidase | PostScript | Lewy body
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14. 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, 12/2014, Volume 72, Issue 2, pp. 201 - 208
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus
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15. 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
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Index Medicus
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16. 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
Review | Ceruloplasmin | Retinal degeneration | Ataxia | Autosomal recessive | Aceruloplasminemia | Dementia | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus
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17. 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 and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Movement disorders, ISSN 0885-3185, 09/2019, Volume 34, Issue 9, pp. 1365 - 1373
Parkinson's | Gaucher | cognition | olfaction | depression | prodromal | glucocerebrosidase | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Confidence intervals | Basal ganglia | Parkinson's disease | Cognitive ability | Olfaction | Central nervous system diseases | Glucosylceramidase | Diagnosis | Mutation | Movement disorders | Index Medicus | Neurosciences | Neurovetenskaper
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