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Increased central microglial activation associated with peripheral cytokine levels in premanifest Huntington's disease gene carriers

Neurobiology of disease, 2015-11, Vol.83, p.115-121

2015

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.291-297

2022

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A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

The Journal of experimental medicine, 2008-08, Vol.205 (8), p.1869-1877

2008

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Brain-derived neurotrophic factor in patients with Huntington's disease

PloS one, 2011-08, Vol.6 (8), p.e22966-e22966

2011

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The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.502-508

2019

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Clinical genetics, 2019-06, Vol.95 (6), p.693-703

2019

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Duplication of 10q24 locus: broadening the clinical and radiological spectrum

European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.525-534

2019

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Genetic testing in neurology

Medicine (Abingdon. 1995, UK ed.), 2023-08, Vol.51 (8), p.573-580

2023

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Corrigendum to “Increased central microglial activation associated with peripheral cytokine levels in premanifest Huntington's disease gene carriers” [Neurobiol. Dis. 83 (2015) 115–121]

Neurobiology of disease, 2017-02, Vol.98, p.162-162

2017

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Communications biology, 2020-04, Vol.3 (1), p.180-180, Article 180

2020

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Abnormal peripheral chemokine profile in Huntington's disease

PLoS currents, 2011-04, Vol.3, p.RRN1231-RRN1231

2011

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Genetic risk for Huntington Disease and reproductive decision‐making: A systematic review

Clinical genetics, 2023-08, Vol.104 (2), p.147-162

2023

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Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease

Human molecular genetics, 2011-06, Vol.20 (11), p.2225-2237

2011

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014

2020

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Developing a consensus protocol for genetic testing in frontotemporal dementia

Alzheimer's & dementia, 2021-12, Vol.17 (S8), p.e052260-n/a

2021

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HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation

Brain (London, England : 1878), 2014-03, Vol.137 (Pt 3), p.819-833

2014

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Selective vulnerability of Rich Club brain regions is an organizational principle of structural connectivity loss in Huntington's disease

Brain (London, England : 1878), 2015-11, Vol.138 (Pt 11), p.3327-3344

2015

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A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

Nature neuroscience, 2015-06, Vol.18 (6), p.807-816

2015

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Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study

Lancet neurology, 2024-03, Vol.23 (3), p.243-255

2024

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Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression

The Journal of clinical investigation, 2012-10, Vol.122 (10), p.3731-3736

2012

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Stability of white matter changes related to Huntington's disease in the presence of imaging noise: a DTI study

PLoS currents, 2011-06, Vol.3, p.RRN1232-RRN1232

2011

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First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood

Neuromuscular disorders : NMD, 2020-07, Vol.30 (7), p.566-571

2020

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eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings

Genetics in medicine, 2022-03, Vol.24 (3), p.S226-S226

2022

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Increased central microglial activation associated with peripheral cytokine levels in premanifest Huntington's disease gene carriers

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

Brain-derived neurotrophic factor in patients with Huntington's disease

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Genetic testing in neurology

Corrigendum to “Increased central microglial activation associated with peripheral cytokine levels in premanifest Huntington's disease gene carriers” [Neurobiol. Dis. 83 (2015) 115–121]

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Abnormal peripheral chemokine profile in Huntington's disease

Genetic risk for Huntington Disease and reproductive decision‐making: A systematic review

Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Developing a consensus protocol for genetic testing in frontotemporal dementia

HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation

Selective vulnerability of Rich Club brain regions is an organizational principle of structural connectivity loss in Huntington's disease

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study

Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Stability of white matter changes related to Huntington's disease in the presence of imaging noise: a DTI study

First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood

eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings

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