Browse by UCL people
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Number of items: 15.
Article
Ceravolo, G;
Zhelcheska, K;
Squadrito, V;
Pellerin, D;
Gitto, E;
Hartley, L;
Houlden, H;
(2023)
Update on leukodystrophies and developing trials.
Journal of Neurology
10.1007/s00415-023-11996-5.
(In press).
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Chen, Z;
Gustavsson, EK;
Macpherson, H;
Anderson, C;
Clarkson, C;
Rocca, C;
Self, E;
... Ptáček, LJ; + view all
(2024)
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Movement Disorders
10.1002/mds.29704.
(In press).
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Clément, G;
Puisieux, S;
Ashton, C;
Pellerin, D;
Danzi, MC;
Bonnet, C;
Roth, V;
... Renaud, M; + view all
(2024)
Oculomotor findings in spinocerebellar ataxia 27B: a case series.
Canadian Journal of Neurological Sciences
pp. 1-6.
10.1017/cjn.2024.355.
(In press).
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Genis, David;
Alemany, Berta;
Pellerin, David;
Brais, Bernard;
Dicaire, Marie-Josee;
Volpini, Victor;
Campos, Berta;
... Torrenta, Lluis; + view all
(2025)
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.
Journal of Neurology
, 272
(3)
, Article 235. 10.1007/s00415-025-12964-x.
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Hocquel, Armand;
Pellerin, David;
Mereaux, Jean loup;
Huin, Vincent;
Hadjivassiliou, Marios;
Clement, Guillemette;
Villa, Felipe;
... Renaud, Mathilde; + view all
(2025)
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.
Journal of Neurology
, 272
(8)
, Article 500. 10.1007/s00415-025-13234-6.
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Iruzubieta, P;
Pellerin, D;
Bergareche, A;
Albajar, I;
Mondragón, E;
Vinagre, A;
Fernández-Torrón, R;
... Ruiz-Martínez, J; + view all
(2023)
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
European Journal of Neurology
, 30
(12)
pp. 3828-3833.
10.1111/ene.16039.
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Kartanou, C;
Mitrousias, A;
Pellerin, D;
Kontogeorgiou, Z;
Iruzubieta, P;
Dicaire, MJ;
Danzi, MC;
... Koutsis, G; + view all
(2024)
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Clinical Genetics
10.1111/cge.14482.
(In press).
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Koutsis, G;
Kartanou, C;
Kontogeorgiou, Z;
Koniari, C;
Mitrousias, A;
Pellerin, D;
Dicaire, MJ;
... Karadima, G; + view all
(2024)
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.
Journal of the Neurological Sciences
, 467
, Article 123309. 10.1016/j.jns.2024.123309.
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Novis, Luiz Eduardo;
Alavi, Shahryar;
Pellerin, David;
Della Coleta, Marcus Vinicius;
Raskin, Salmo;
Spitz, Mariana;
Cortese, Andrea;
... Teive, Helio Afonso; + view all
(2024)
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Parkinsonism and Related Disorders
, 119
, Article 105961. 10.1016/j.parkreldis.2023.105961.
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Pellerin, D;
Heindl, F;
Traschütz, A;
Rujescu, D;
Hartmann, AM;
Brais, B;
Houlden, H;
... Synofzik, M; + view all
(2024)
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.
Journal of Neurology
10.1007/s00415-024-12229-z.
(In press).
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Pellerin, David;
Del Gobbo, Giulia F;
Couse, Madeline;
Dolzhenko, Egor;
Nageshwaran, Sathiji K;
Cheung, Warren A;
Xu, Isaac RL;
... Danzi, Matt C; + view all
(2024)
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Nature Genetics
, 56
(7)
pp. 1366-1370.
10.1038/s41588-024-01808-5.
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Pellerin, David;
Iruzubieta, Pablo;
Xu, Isaac RL;
Danzi, Matt C;
Cortese, Andrea;
Synofzik, Matthis;
Houlden, Henry;
... Brais, Bernard; + view all
(2025)
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.
Current Neurology and Neuroscience Reports
, 25
, Article 16. 10.1007/s11910-024-01400-8.
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Pellerin, David;
Wilke, Carlo;
Traschütz, Andreas;
Nagy, Sara;
Currò, Riccardo;
Dicaire, Marie-Josée;
Garcia-Moreno, Hector;
... Synofzik, Matthis; + view all
(2023)
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2023-331490.
(In press).
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Turkdogan, Dilsad;
Smolina, Natalia;
Tekgul, Seyma;
Guel, Tugce;
Yesilyurt, Ahmet;
Houlden, Henry;
Zuchner, Stephan;
... Basak, Ayse Nazli; + view all
(2025)
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient.
Movement Disorders
, 40
(2)
pp. 370-375.
10.1002/mds.30087.
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Vegezzi, Elisa;
Ishiura, Hiroyuki;
Bragg, Cristopher;
Pellerin, David;
Magrinelli, Francesca;
Currò, Riccardo;
Facchini, Stefano;
... Cortese, Andrea; + view all
(2024)
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
The Lancet Neurology
, 23
(7)
pp. 725-739.
10.1016/S1474-4422(24)00167-4.
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