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Screening for the APP codon 670 671 mutations in Alzheimer's disease

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Pantothenate kinase-associated neurodegeneration is not a synucleinopathy

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Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

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LRP10 in α-synucleinopathies

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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

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A Pathogenic Presenilin-1 Deletion Causes Abberrant Aβ42 Production in the Absence of Congophilic Amyloid Plaques*

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5′ Splice Site Mutations in tau Associated with the Inherited Dementia FTDP-17 Affect a Stem-Loop Structure That Regulates Alternative Splicing of Exon 10*

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The Parkinson ’ s disease – linked proteins Fbxo 7 and Parkin interact to mediate mitophagy

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A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene

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Mapping the human genetic architecture of COVID-19

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Using human induced pluripotent stem cells to model cerebellar disease: Hope and hype

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Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A

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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

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Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia

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PRRT2 gene mutations

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Identification of sixteen novel candidate genes for late onset Parkinson’s disease

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Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

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Genetics of neurodegenerative diseases: an overview.

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Riboflavin Transporter Deficiency Neuronopathy

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Towards a complete resolution of the genetic architecture of disease.

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A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies

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A glimpse of the genetics of young‐onset Parkinson’s disease in Central Asia

J. Hardy, H. Houlden, J. Vandrovcova, 2021, Molecular genetics & genomic medicine.

Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

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DNA repair in the trinucleotide repeat disorders

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A novel complex neurological phenotype due to a homozygous mutation in FDX2

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Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

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A locus for familial early–onset Alzhelmer's disease on the long arm of chromosome 14, proximal to the α1–antichymotrypsin gene

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

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DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

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Assessment of Parkinson's disease risk loci in Greece

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A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient

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The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene.

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Clinical implications of genetic advances in Charcot–Marie–Tooth disease

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Validation of next-generation sequencing technologies in genetic diagnosis of dementia

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NOTCH2NLC Intermediate‐Length Repeat Expansion and Parkinson's Disease in Patients of European Descent

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Genetic linkage analysis of a large family with photoparoxysmal response

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ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.

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Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy

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Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS‐1 mutations that lead to exceptionally high amyloid‐β concentrations

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A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

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The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

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APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease

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Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

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APOE E4 is associated with impaired self-declared cognition but not disease risk or age of onset in Nigerians with Parkinson’s disease

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Polymorphism in AACT gene may lower age of onset of Alzheimer's disease

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Parkinson's disease, but not Alzheimer's disease, Lewy body variant associated with mutant alleles at cytochrome P450 gene

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Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis

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Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

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WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

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Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease

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Apolipoprotein E4 and traumatic brain injury

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Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset

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Young‐onset parkinsonism due to homozygous duplication of α‐synuclein in a consanguineous family

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Multiple system atrophy and repeat expansions in C9orf72.

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A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers.

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy

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Assessment of APOE in atypical parkinsonism syndromes

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THAP1 mutations in a Greek primary blepharospasm series.

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Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages

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Microglia produce the amyloidogenic ABri peptide in familial British dementia

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Familial idiopathic brain calcification--a new and familial alpha-synucleinopathy?

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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

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Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency

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PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

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Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinsons Disease in African and African Admixed Populations

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Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

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The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.

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Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

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Genome-wide association study of intracranial aneurysms 1 reveals 17 risk loci , polygenic architecture , genetic overlap 2 with clinical risk factors , and opportunities for prevention

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Parkinson's Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care

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Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

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What are the experiences of adults returning to work following recovery from Guillain-Barré syndrome? An interpretative phenomenological analysis

H. Houlden, F. Reynolds, Emma Royal, 2009, Disability and rehabilitation.

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, G. Schellenberg, 2012, The Lancet Neurology.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.

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POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS

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Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

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MAPT allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinson’s disease risk and age at onset

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Review: Genetics and neuropathology of primary pure dystonia

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Genetic and phenotypic characterization of complex hereditary spastic paraplegia

A. Singleton, J. Hardy, K. Bhatia, 2016, Brain : a journal of neurology.

Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21.

M. V. van Baren, J. Hardy, P. Nowotny, 1999, Genomics.

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2019, npj Parkinson's Disease.

A second update on mapping the human genetic architecture of COVID-19

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GGC Repeat Expansion in NOTCH2NLC is rare in European Leukoencephalopathy.

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Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease

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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

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THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

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Common pathogenic pathways in melanoma and Parkinson disease

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Co-existence of amyloid ADan and amyloid-beta in familial Danish dementia

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

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Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.

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Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia.

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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

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Whole-genome sequencing reveals host factors underlying critical COVID-19

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PAW32 ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description of a novel kindred

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Connexin 32 promoter P2 mutations: A mechanism of peripheral nerve dysfunction

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Stratified analyses refine association between TLR7 rare variants and severe COVID-19

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