Sarah Wiethoff

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 58 publications

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

Microglia contribute to the production of the amyloidogenic ABri peptide in familial British dementia.

Microglia contribute to the production of the amyloidogenic ABri peptide in familial British dementia.

Journal: Acta neuropathologica

Published: September 10, 2024

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Journal: Journal of neurogenetics

Published: July 08, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.

Journal: Frontiers in genetics

Published: April 23, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: medRxiv : the preprint server for health sciences

Published: July 28, 2023

Microglia produce the amyloidogenic ABri peptide in familial British dementia.

Microglia produce the amyloidogenic ABri peptide in familial British dementia.

Journal: bioRxiv : the preprint server for biology

Published: July 10, 2023

Emerging potential mechanisms and predispositions to the neurological manifestations of COVID-19.

Emerging potential mechanisms and predispositions to the neurological manifestations of COVID-19.

Journal: Journal of the neurological sciences

Published: May 20, 2021

A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 08, 2021

Reply: Concentric demyelination pattern in COVID-19-associated acute haemorrhagic leukoencephalitis: a lurking catastrophe?

Reply: Concentric demyelination pattern in COVID-19-associated acute haemorrhagic leukoencephalitis: a lurking catastrophe?

Journal: Brain : a journal of neurology

Published: December 16, 2020

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.

Journal: European journal of human genetics : EJHG

Published: July 07, 2020

The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings.

The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings.

Journal: Brain : a journal of neurology

Published: June 01, 2020

Showing 1-12 of 58

Last Updated: 09/26/2026