Browse by UCL people
Group by: Type | Date
Number of items: 15.
2019
Horga, A;
Bugiardini, E;
Manole, A;
Bremner, F;
Jaunmuktane, Z;
Dankwa, L;
Rebelo, AP;
... Reilly, MM; + view all
(2019)
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy.
Neurology: Genetics
, 5
(2)
, Article e322. 10.1212/NXG.0000000000000322.
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Horga, A;
Woodward, CE;
Mills, A;
Pareés, I;
Hargreaves, IP;
Brown, RM;
Bugiardini, E;
... Hanna, MG; + view all
(2019)
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Human Genetics
10.1007/s00439-019-02075-9.
(In press).
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Horga Hernández, Alejandro;
(2019)
Clinical and Genetic Investigations of Inherited Neuropathies and Mitochondrial Disease.
Doctoral thesis (Ph.D), UCL (University College London).
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2018
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Tomaselli, PJ;
Horga, A;
Rossor, AM;
Jaunmuktane, Z;
Cortese, A;
Blake, JC;
Zarate-Lopez, N;
... Reilly, MM; + view all
(2018)
IGHMBP2 mutation associated with organ-specific autonomic dysfunction.
Neuromuscular Disorders
, 28
(12)
pp. 1012-1015.
10.1016/j.nmd.2018.08.010.
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2017
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Bugiardini, E;
Poole, OV;
Manole, A;
Pittman, AM;
Horga, A;
Hargreaves, I;
Woodward, CE;
... Pitceathly, RDS; + view all
(2017)
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Neurology Genetics
, 3
(3)
, Article e149. 10.1212/NXG.0000000000000149.
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Horga, A;
Laurà, M;
Jaunmuktane, Z;
Jerath, NU;
Gonzalez, MA;
Polke, JM;
Poh, R;
... Reilly, MM; + view all
(2017)
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Journal of Neurology, Neurosurgery and Psychiatry
, 88
(7)
pp. 575-585.
10.1136/jnnp-2016-315077.
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Manole, A;
Jaunmuktane, Z;
Hargreaves, I;
Ludtmann, MHR;
Salpietro, V;
Bello, OD;
Pope, S;
... Houlden, H; + view all
(2017)
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Brain
, 140
(11)
pp. 2820-2837.
10.1093/brain/awx231.
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Tomaselli, PJ;
Rossor, AM;
Horga, A;
Jaunmuktane, Z;
Carr, A;
Saveri, P;
Piscosquito, G;
... Reilly, MM; + view all
(2017)
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Neurology
, 88
(15)
pp. 1445-1453.
10.1212/WNL.0000000000003819.
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Tomaselli, PJ;
Rossor, AM;
Horga, A;
Laura, M;
Blake, JC;
Houlden, H;
Reilly, MM;
(2017)
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
Journal of the Peripheral Nervous System
, 22
(4)
pp. 460-463.
10.1111/jns.12235.
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2016
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Horga, A;
Tomaselli, PJ;
Gonzalez, MA;
Laurà, M;
Muntoni, F;
Manzur, AY;
Hanna, MG;
... Reilly, MM; + view all
(2016)
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Neurology
, 87
(15)
pp. 1607-1612.
10.1212/WNL.0000000000003212.
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Manole, A;
Horga, A;
Gamez, J;
Raguer, N;
Salvado, M;
San Millan, B;
Navarro, C;
... Houlden, H; + view all
(2016)
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
Neurogenetics
, 18
(1)
pp. 63-67.
10.1007/s10048-016-0505-1.
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Rebelo, AP;
Abrams, AJ;
Cottenie, E;
Horga, A;
Gonzalez, M;
Bis, DM;
Sanchez-Mejias, A;
... Zuchner, S; + view all
(2016)
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
The American Journal of Human Genetics
, 98
(4)
pp. 597-614.
10.1016/j.ajhg.2016.02.022.
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2014
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Cottenie, E;
Kochanski, A;
Jordanova, A;
Bansagi, B;
Zimon, M;
Horga, A;
Jaunmuktane, Z;
... Houlden, H; + view all
(2014)
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
, 95
(5)
590 - 601.
10.1016/j.ajhg.2014.10.002.
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Horga, A;
Pitceathly, RD;
Blake, JC;
Woodward, CE;
Zapater, P;
Fratter, C;
Mudanohwo, EE;
... Reilly, MM; + view all
(2014)
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
Brain
, 137
(Pt 12)
3200 - 3212.
10.1093/brain/awu279.
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2013
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Horga, A;
Raja Rayan, DL;
Matthews, E;
Sud, R;
Fialho, D;
Durran, SC;
Burge, JA;
... Hanna, MG; + view all
(2013)
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Neurology
, 80
(16)
1472 - 1475.
10.1212/WNL.0b013e31828cf8d0.
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