Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
James Fasham, Julia Rankin, Rachel Schot, Katrina M. Bell et autres
2 citationsThe American Journal of Human Genetics
Andrea H. Németh
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211Publications signalées
12528Citations signalées
5Affiliations récentes
Institutions déclarées
Domaines associés
Genetic Neurodegenerative DiseasesMitochondrial Function and PathologyGenomics and Rare DiseasesNeurological disorders and treatmentsGenetics and Neurodevelopmental Disorders
Publications récentes
Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 ( RGS9 )
Grace A. Borchert, Rachael C. Heath Jeffery, Sian Sperring, Morag Shanks et autres
0 citationsOphthalmic Genetics
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers
Elena Pretegiani, Pilar Garcés, Chrystalina A. Antoniades, Anna Sobańska et autres
1 citationThe Cerebellum
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism
Holger Hengel, Shabab B. Hannan, Selina Reich, Danique Beijer et autres
7 citationsBrain
A Multicentre Prospective Longitudinal Study of Novel Imaging Biomarkers in FRDA
Gilbert Thomas‐Black, Daniel R. Altmann, Harry Crook, Nita Solanky et autres
0 citationsSSRN Electronic Journal
The effect of different interfaces during virtual game practice on motor performance of individuals with genetic ataxia: A cross-sectional study
Zódja Graciani, Íbis Ariana Peña de Moraes, Camila Aparecida de Oliveira Alberissi, Janina Manzieri Prado‐Rico et autres
2 citationsPLoS ONE
#CC-Paper-03 Clinical and electrophysiological phenotype in probands with homozygous variant, c.895T>C, in RGS9
Grace A. Borchert, Rachael C. Heath Jeffery, Sian Sperring, Morag Shanks et autres
0 citations
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
James H. Liu, Yi He, Cara Lwin, Marina Han et autres
12 citationsBrain
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray et autres
18 citationsThe American Journal of Human Genetics
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Riccardo Curró, Natalia Dominik, Stefano Facchini, Elisa Vegezzi et autres
30 citationsBrain
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers
Andrea H. Németh, Chrystalina A. Antoniades, Juergen Dukart, Martina Minnerop et autres
18 citationsThe Cerebellum
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi‐Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon J. McGowan, David Sims et autres
18 citationsMovement Disorders
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