Browse by UCL people
Group by: Type | Date
Number of items: 14.
Article
Azad, B;
Efthymiou, S;
Sultan, T;
Scala, M;
Alvi, JR;
Neuray, C;
Dominik, N;
... Houlden, H; + view all
(2020)
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.
Journal of the Neurological Sciences
, 414
, Article 116826. 10.1016/j.jns.2020.116826.
|
 |
|
Currò, R;
Salvalaggio, A;
Tozza, S;
Gemelli, C;
Dominik, N;
Galassi Deforie, V;
Magrinelli, F;
... Cortese, A; + view all
(2021)
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Brain
10.1093/brain/awab072.
(In press).
|
|
|
Dominik, N;
Galassi Deforie, V;
Cortese, A;
Houlden, H;
(2020)
CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.
Journal of Neurology
10.1007/s00415-020-10183-0.
(In press).
|
|
|
Dworschak, GC;
Punetha, J;
Kalanithy, JC;
Mingardo, E;
Erdem, HB;
Akdemir, ZC;
Karaca, E;
... Reutter, H; + view all
(2021)
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genetics in Medicine
10.1038/s41436-021-01196-9.
|
|
|
Kaiyrzhanov, R;
Zaki, MS;
Maroofian, R;
Dominik, N;
Rad, A;
Vona, B;
Houlden, H;
(2021)
A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities.
Movement Disorders Clinical Practice
10.1002/mdc3.13310.
(In press).
|
|
|
Kumar, KR;
Cortese, A;
Tomlinson, SE;
Efthymiou, S;
Ellis, M;
Zhu, D;
Stoll, M;
... Kennerson, M; + view all
(2020)
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Brain
, 143
(10)
, Article e82. 10.1093/brain/awaa244.
|
|
Meindl, T;
Cordts, I;
Scherzer, A-L;
Lingor, P;
Maegerlein, C;
Galassi Deforie, V;
Dominik, N;
... Deschauer, M; + view all
(2020)
CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia.
Der Nervenarzt
10.1007/s00115-020-00912-1.
(In press).
|
|
|
Pagnamenta, AT;
Kaiyrzhanov, R;
Zou, Y;
Da'as, SI;
Maroofian, R;
Donkervoort, S;
Dominik, N;
... Houlden, H; + view all
(2021)
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
10.1093/brain/awaa420.
(In press).
|
|
|
Saida, K;
Maroofian, R;
Sengoku, T;
Mitani, T;
Pagnamenta, AT;
Marafi, D;
Zaki, MS;
... Matsumoto, N; + view all
(2023)
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genetics in Medicine
, 25
(1)
pp. 90-102.
10.1016/j.gim.2022.09.010.
|
|
Scriba, CK;
Beecroft, SJ;
Clayton, JS;
Cortese, A;
Sullivan, R;
Yau, WY;
Dominik, N;
... Ravenscroft, G; + view all
(2020)
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Brain
, 143
(10)
pp. 2904-2910.
10.1093/brain/awaa263.
|
|
Sullivan, R;
Yau, WY;
Chelban, V;
Rossi, S;
Dominik, N;
O'Connor, E;
Hardy, J;
... Houlden, H; + view all
(2021)
RFC1-related ataxia is a mimic of early multiple system atrophy.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2020-325092.
(In press).
|
|
|
Tozza, S;
Cortese, A;
Iovino, A;
Esposito, M;
Dominik, N;
Iodice, R;
Manganelli, F;
(2021)
Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia.
Neurology Genetics
, 7
(1)
, Article e541. 10.1212/NXG.0000000000000541.
|
|
|
Traschütz, A;
Cortese, A;
Reich, S;
Dominik, N;
Faber, J;
Jacobi, H;
Hartmann, AM;
... RFC1 study group; + view all
(2021)
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1-disease.
Neurology
10.1212/WNL.0000000000011528.
(In press).
|
|
Thesis
|
Dominik, Natalia;
(2024)
Genetic and functional
characterisation of ataxias and
neuropathies with a focus on biallelic expansions in RFC1 and biallelic variants in ARHGAP19.
Doctoral thesis (Ph.D), UCL (University College London).
|
|
