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Amyotrophic lateral sclerosis is over-represented in two Huntington’s disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion

Acta neuropathologica, 2022-01, Vol.143 (1), p.105-108

2022

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ATXN2 intermediate expansions in amyotrophic lateral sclerosis

Brain (London, England : 1878), 2022-08, Vol.145 (8), p.2671-2676

2022

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Highlighting the clinical potential of HTT repeat expansions in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Neuron (Cambridge, Mass.), 2021-06, Vol.109 (12), p.1947-1948

2021

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Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas

Scientific reports, 2020-07, Vol.10 (1), p.12563-12563, Article 12563

2020

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In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees

Leukemia, 2020-07, Vol.34 (7), p.1934-1938

2020

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The Association of CD81 Polymorphisms with Alloimmunization in Sickle Cell Disease

Clinical & developmental immunology, 2013-01, Vol.2013 (2013), p.1-9

2013

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Plasma microRNA signature as biomarker for disease progression in frontotemporal dementia and amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2021-05, Vol.92 (5), p.458-458

2021

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Age-related accumulation of T cells with markers of relatively stronger autoreactivity leads to functional erosion of T cells

BMC immunology, 2012-02, Vol.13 (1), p.8-8, Article 8

2012

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Canagliflozin Associated with MELAS Pseudoexacerbation (S5.005)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Man’s Best Friend: A Survey of Academic Neurologists and Subsequent Review of the Literature Exploring Seizure Dogs (P4.275)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Unrelenting Posterior Circulation TIAs Improved by Left Vertebral Angioplasty and Stenting (P4.216)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis

Journal of the neurological sciences, 2021-11, Vol.430, p.118061-118061, Article 118061

2021

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Intermediate HTT CAG repeats worsen disease severity in amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2024-09, p.jnnp-2024-333998

2024

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CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy‐like Phenotype

Movement disorders, 2022-07, Vol.37 (7), p.1555-1557

2022

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Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

Science advances, 2021-01, Vol.7 (3)

2021

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Whole exome sequencing and copy-number variation analysis of 20 NF2-associated spinal and cranial meningiomas

Journal of clinical oncology, 2017-05, Vol.35 (15_suppl), p.2051-2051

2017

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Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas

Neuro-oncology (Charlottesville, Va.), 2015-04, Vol.17 (4), p.566-573

2015

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Structural variants in Lewy body dementia and frontotemporal dementia spectrum

Alzheimer's & dementia, 2023-12, Vol.19 (S12), p.n/a

2023

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Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

Haematologica (Roma), 2016-07, Vol.101 (7), p.846-852

2016

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Mice Lacking M1 and M3 Muscarinic Acetylcholine Receptors Have Impaired Odor Discrimination and Learning

Frontiers in synaptic neuroscience, 2017-02, Vol.9, p.4-4

2017

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First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation

BMC cancer, 2017-02, Vol.17 (1), p.127-127, Article 127

2017

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Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family

Human genetics, 2015-07, Vol.134 (7), p.775-787

2015

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Abstract 2756: Whole-exome sequencing reveals a novel germline variant in CEBPA-associated familial acute myeloid leukemia: 45-year follow-up of a large family

Cancer research (Chicago, Ill.), 2015-08, Vol.75 (15_Supplement), p.2756-2756

2015

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Audiovestibular Characteristics of Small Cochleovestibular Schwannomas in Neurofibromatosis Type 2

Otolaryngology-head and neck surgery, 2013-09, Vol.149 (2_suppl), p.P92-P92

2013

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Amyotrophic lateral sclerosis is over-represented in two Huntington’s disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion

ATXN2 intermediate expansions in amyotrophic lateral sclerosis

Highlighting the clinical potential of HTT repeat expansions in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas

In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees

The Association of CD81 Polymorphisms with Alloimmunization in Sickle Cell Disease

Plasma microRNA signature as biomarker for disease progression in frontotemporal dementia and amyotrophic lateral sclerosis

Age-related accumulation of T cells with markers of relatively stronger autoreactivity leads to functional erosion of T cells

Canagliflozin Associated with MELAS Pseudoexacerbation (S5.005)

Man’s Best Friend: A Survey of Academic Neurologists and Subsequent Review of the Literature Exploring Seizure Dogs (P4.275)

Unrelenting Posterior Circulation TIAs Improved by Left Vertebral Angioplasty and Stenting (P4.216)

Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

Intermediate HTT CAG repeats worsen disease severity in amyotrophic lateral sclerosis

CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy‐like Phenotype

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

Whole exome sequencing and copy-number variation analysis of 20 NF2-associated spinal and cranial meningiomas

Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas

Structural variants in Lewy body dementia and frontotemporal dementia spectrum

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

Mice Lacking M1 and M3 Muscarinic Acetylcholine Receptors Have Impaired Odor Discrimination and Learning

First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation

Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family

Abstract 2756: Whole-exome sequencing reveals a novel germline variant in CEBPA-associated familial acute myeloid leukemia: 45-year follow-up of a large family

Audiovestibular Characteristics of Small Cochleovestibular Schwannomas in Neurofibromatosis Type 2

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