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Applying genomic and transcriptomic advances to mitochondrial medicine

Nature reviews. Neurology, 2021-04, Vol.17 (4), p.215-230

2021

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Prevalence of familial cluster headache: a systematic review and meta-analysis

Journal of headache and pain, 2020-04, Vol.21 (1), p.37-37, Article 37

2020

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GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy

Annals of neurology, 2020-09, Vol.88 (3), p.641-642

2020

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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

European journal of human genetics : EJHG, 2020-12, Vol.28 (12), p.1763-1768

2020

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The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

Brain (London, England : 1878), 2017-08, Vol.140 (8), p.e49-e49

2017

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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

Human molecular genetics, 2012-09, Vol.21 (18), p.4094-4103

2012

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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

Acta neuropathologica, 2020-03, Vol.139 (3), p.415-442

2020

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Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally

Scientific reports, 2023-08, Vol.13 (1), p.13874-13874, Article 13874

2023

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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.15-15, Article 15

2024

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

Nature communications, 2020-02, Vol.11 (1), p.1041-1041, Article 1041

2020

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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Nature communications, 2021-04, Vol.12 (1), p.2076-2076, Article 2076

2021

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1348-1353

2021

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Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Genetics in medicine, 2016-11, Vol.18 (11), p.1119-1127

2016

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The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia

Frontiers in neurology, 2023-08, Vol.14, p.1239725

2023

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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1462-1465

2021

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POLR3A‐related disorders: From spastic ataxia to generalised dystonia and long‐term efficacy of deep brain stimulation

Annals of clinical and translational neurology, 2024-06, Vol.11 (6), p.1636-1642

2024

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Variation in tau isoform expression in different brain regions and disease states

Neurobiology of aging, 2013-07, Vol.34 (7), p.1922.e7-1922.e12

2013

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Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

Neurobiology of aging, 2014-06, Vol.35 (6), p.1514.e1-1514.e12

2014

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Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?

Annals of clinical and translational neurology, 2021-04, Vol.8 (4), p.1002-1004

2021

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

Molecular genetics & genomic medicine, 2021-06, Vol.9 (6), p.e1671-n/a

2021

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Profiling complex repeat expansions in RFC1 in Parkinson's disease

NPJ Parkinson's Disease, 2024-05, Vol.10 (1), p.108-108, Article 108

2024

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SORL1 mutation in a Greek family with Parkinson's disease and dementia

Annals of clinical and translational neurology, 2021-10, Vol.8 (10), p.1961-1969

2021

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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Applying genomic and transcriptomic advances to mitochondrial medicine

Prevalence of familial cluster headache: a systematic review and meta-analysis

GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

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

Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

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

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

The South Asian genome

POLR3A‐related disorders: From spastic ataxia to generalised dystonia and long‐term efficacy of deep brain stimulation

Variation in tau isoform expression in different brain regions and disease states

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?

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

Profiling complex repeat expansions in RFC1 in Parkinson's disease

SORL1 mutation in a Greek family with Parkinson's disease and dementia

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