T. Ravenscroft

发表

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

N. C. Yeo, Undiagnosed Diseases Network, S. Nelson, 2022, Science advances.

Genetics of FTLD: overview and what else we can expect from genetic studies

R. Rademakers, C. Pottier, T. Ravenscroft, 2016, Journal of neurochemistry.

Drosophila Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains

Burak Tepe, Stein Aerts, Todd C. Holmes, 2020, The Journal of Neuroscience.

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

Kevin F. Bieniek, D. Geschwind, M. Mesulam, 2013, Neurology.

Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome

B. Ghetti, A. Espay, M. C. Hagen, 2016, Neurology.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Michael F. Wangler, J. Rosenfeld, A. Moser, 2020, Neuron.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Michael F. Wangler, Q. K. Tan, R. Pfundt, 2021, American journal of human genetics.

Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS

B. Boeve, D. Dickson, W. Seeley, 2013, Neurobiology of Aging.

Progressive Supranuclear Palsy in a family with TDP-43 pathology

A. Kertesz, H. Chertkow, D. Munoz, 2015, Neurocase.

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

S. Antonarakis, E. Falconnet, H. Bellen, 2019, American journal of human genetics.

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Kevin F. Bieniek, R. Petersen, B. Boeve, 2015, Acta Neuropathologica.

The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.

M. Murray, D. Dickson, N. Graff-Radford, 2016, American journal of neurodegenerative disease.

TYROBP genetic variants in early-onset Alzheimer's disease

Ronald C. Petersen, Guojun Bu, Cyril Pottier, 2016, Neurobiology of Aging.

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

J. McDonald, F. Plattner, Gang Yu, 2017, Cell reports.

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Sharyn A. Lincoln, Michael F. Wangler, J. Rosenfeld, 2021, Genetics in Medicine.

The Voltage-Gated Sodium Channel in Drosophila, Para, Localizes to Dendrites As Well As Axons in Mechanosensitive Chordotonal Neurons

H. Bellen, D. Eberl, T. Ravenscroft, 2023, eNeuro.