Browse by UCL people
Group by: Type | Date
Number of items: 17.
Article
Batla, A;
Tai, XY;
Schottlaender, L;
Erro, R;
Balint, B;
Bhatia, KP;
(2016)
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
Parkinsonism & Related Disorders
, 37
pp. 1-10.
10.1016/j.parkreldis.2016.12.024.
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Chelban, V;
Carecchio, M;
Rea, G;
Bowirrat, A;
Kirmani, S;
Magistrelli, L;
Efthymiou, S;
... Houlden, H; + view all
(2020)
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Neurology Genetics
, 6
(2)
, Article e399. 10.1212/NXG.0000000000000399.
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Chelban, V;
Manole, A;
Pihlstrøm, L;
Schottlaender, L;
Efthymiou, S;
OConnor, E;
Meissner, WG;
... Houlden, H; + view all
(2017)
Analysis of the prion protein gene in multiple system atrophy.
Neurobiology of Aging
, 49
216.e15-216.e18.
10.1016/j.neurobiolaging.2016.09.021.
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Gami, P;
Murray, C;
Schottlaender, L;
Bettencourt, C;
De Pablo Fernandez, E;
Mudanohwo, E;
Mizielinska, S;
... Lashley, T; + view all
(2015)
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
Acta Neuropathologica
, 130
(4)
pp. 599-601.
10.1007/s00401-015-1473-5.
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Kara, E;
Tucci, A;
Manzoni, C;
Lynch, DS;
Elpidorou, M;
Bettencourt, C;
Chelban, V;
... Houlden, H; + view all
(2016)
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Brain
, 139
(7)
pp. 1904-1918.
10.1093/brain/aww111.
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Mok, KY;
Koutsis, G;
Schottlaender, LV;
Polke, J;
Panas, M;
Houlden, H;
(2012)
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.
Neurobioly of Aging
, 33
(8)
1851.e1 - 1851.e5.
10.1016/j.neurobiolaging.2012.02.021.
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Perez-Rodriguez, D;
Kalyva, M;
Leija-Salazar, M;
Lashley, T;
Tarabichi, M;
Chelban, V;
Gentleman, S;
... Proukakis, C; + view all
(2019)
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.
Acta Neuropathologica Communications
, 7
(1)
, Article 219. 10.1186/s40478-019-0873-5.
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Pihlstrom, L;
Schottlaender, L;
Chelban, V;
Houlden, H;
(2018)
LRP10 in alpha-synucleinopathies.
Lancet Neurology
, 17
(12)
pp. 1033-1034.
10.1016/S1474-4422(18)30407-1.
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Pihlstrom, L;
Schottlaender, L;
Chelban, V;
Meissner, WG;
Federoff, M;
Singleton, A;
Houlden, H;
(2018)
Lysosomal storage disorder gene variants in multiple system atrophy.
[Letter].
Brain
, 141
(7)
e53.
10.1093/brain/awy124.
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Sailer, A;
Scholz, SW;
Nalls, MA;
Schulte, C;
Federoff, M;
Price, TR;
Lees, A;
... European Multiple System Atrophy Study Group and the UK Multiple; + view all
(2016)
A genome-wide association study in multiple system atrophy.
Neurology
, 87
(15)
pp. 1591-1598.
10.1212/WNL.0000000000003221.
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Schottlaender, LV;
Abeti, R;
Jaunmuktane, Z;
Macmillan, C;
Chelban, V;
O'Callaghan, B;
McKinley, J;
... Houlden, H; + view all
(2020)
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
AJHG
, 106
(3)
pp. 412-421.
10.1016/j.ajhg.2020.02.007.
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Schottlaender, LV;
Bettencourt, C;
Kiely, AP;
Chalasani, A;
Neergheen, V;
Holton, JL;
Hargreaves, I;
(2016)
Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.
PLoS One
, 11
(2)
, Article e0149557. 10.1371/journal.pone.0149557.
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Schottlaender, LV;
Polke, JM;
Ling, H;
MacDoanld, ND;
Tucci, A;
Nanji, T;
Pittman, A;
... Houlden, H; + view all
(2015)
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
Neurobiol Aging
, 36
(2)
1221.e1 - 1221.e6.
10.1016/j.neurobiolaging.2014.08.024.
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Selikhova, M;
Fedotova, E;
Wiethoff, S;
Schottlaender, LV;
Klyushnikov, S;
Illarioshkin, SN;
Houlden, H;
(2017)
A 30-year history of MPAN case from Russia.
Clinical Neurology and Neurosurgery
, 159
pp. 111-113.
10.1016/j.clineuro.2017.05.025.
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Sokratous, M;
Lucia, S;
Bourinaris, T;
Marogianni, C;
Arnaoutoglou, M;
Patrikiou, E;
Ralli, S;
... Xiromerisiou, G; + view all
(2020)
Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
, 21
(5-6)
pp. 470-472.
10.1080/21678421.2020.1757115.
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Wadman, R;
De Amicis, R;
Brusa, C;
Battezzati, A;
Bertoli, S;
Davis, T;
Main, M;
... Muntoni, F; + view all
(2021)
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2.
Neuromuscular Disorders
, 31
(2)
pp. 101-112.
10.1016/j.nmd.2020.12.007.
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Thesis
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Schottlaender, Lucia Valentina;
(2018)
Genetic analysis of multiple system atrophy and related movement disorders.
Doctoral thesis (Ph.D), UCL (University College London).
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