Browse by UCL people
Group by: Type | Date
Number of items: 25.
Article
Al Shareef, SM;
Basit, S;
Li, S;
Pfister, C;
Pradervand, S;
Lecendreux, M;
Mayer, G;
... Tafti, M; + view all
(2019)
Kleine-Levin syndrome is associated with LMOD3 variants.
Journal Of Sleep Research
, 28
(3)
, Article e12718. 10.1111/jsr.12718.
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Anazi, S;
Maddirevula, S;
Salpietro, V;
Asi, YT;
Alsahli, S;
Alhashem, A;
Shamseldin, HE;
... Alkuraya, FS; + view all
(2017)
Expanding the genetic heterogeneity of intellectual disability.
Human Genetics
, 136
(11-12)
pp. 1419-1429.
10.1007/s00439-017-1843-2.
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Baldassari, S;
Musante, I;
Iacomino, M;
Zara, F;
Salpietro, V;
Scudieri, P;
(2020)
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders.
Frontiers in Cell and Developmental Biology
, 8
, Article 590119. 10.3389/fcell.2020.590119.
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Balint, B;
Erro, R;
Salpietro, V;
Houlden, H;
Bhatia, KP;
(2016)
PKD or Not PKD: That is the question.
[Letter].
Annals of Neurology
, 80
(1)
pp. 167-168.
10.1002/ana.24668.
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Bell, S;
Rousseau, J;
Peng, H;
Aouabed, Z;
Priam, P;
Theroux, J-F;
Jefri, M;
... Campeau, PM; + view all
(2019)
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
The American Journal of Human Genetics
, 104
(5)
pp. 815-834.
10.1016/j.ajhg.2019.03.022.
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Bettencourt, C;
Salpietro, V;
Efthymiou, S;
Chelban, V;
Hughes, D;
Pittman, AM;
Federoff, M;
... Xiromerisiou, G; + view all
(2017)
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Orphanet Journal of Rare Diseases
, 12
, Article 172. 10.1186/s13023-017-0721-2.
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Coleman, J;
Jouannot, O;
Ramakrishnan, SK;
Zanetti, MN;
Wang, J;
Salpietro, V;
Houlden, H;
... Krishnakumar, SS; + view all
(2018)
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.
Cell Reports
, 22
(3)
pp. 820-831.
10.1016/j.celrep.2017.12.056.
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Cortese, A;
Simone, R;
Sullivan, R;
Vandrovcova, J;
Tariq, H;
Yan, YW;
Humphrey, J;
... Houlden, H; + view all
(2019)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nature Genetics
, 51
(4)
pp. 649-658.
10.1038/s41588-019-0372-4.
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Ghosh, SG;
Becker, K;
Huang, H;
Dixon-Salazar, T;
Chai, G;
Salpietro, V;
Al-Gazali, L;
... Gleeson, JG; + view all
(2018)
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
American Journal of Human Genetics
, 103
(5)
pp. 431-439.
10.1016/j.ajhg.2018.07.010.
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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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Mencacci, NE;
Kamsteeg, EJ;
Nakashima, K;
R'Bibo, L;
Lynch, DS;
Balint, B;
Willemsen, MA;
... Bhatia, KP; + view all
(2016)
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
The American Journal of Human Genetics
, 98
(4)
pp. 763-771.
10.1016/j.ajhg.2016.02.015.
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Niccolini, F;
Mencacci, NE;
Yousaf, T;
Rabiner, EA;
Salpietro, V;
Pagano, G;
Balint, B;
... Politis, M; + view all
(2018)
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.
Movement Disorders
10.1002/mds.27523.
(In press).
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Papandreou, A;
Schneider, RB;
Augustine, EF;
Ng, J;
Mankad, K;
Meyer, E;
McTague, A;
... Kurian, MA; + view all
(2016)
Delineation of the movement disorders associated with FOXG1 mutations.
Neurology
, 86
(19)
pp. 1794-1800.
10.1212/WNL.0000000000002585.
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Piard, J;
Umanah, GKE;
Harms, FL;
Abalde-Atristain, L;
Amram, D;
Chang, M;
Chen, R;
... Kutsche, K; + view all
(2018)
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
Brain
, 141
(3)
pp. 651-661.
10.1093/brain/awx377.
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Pironti, E;
Granata, F;
Cucinotta, F;
Gagliano, A;
Efthymiou, S;
Houlden, H;
Salpietro, V;
(2018)
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study.
Epileptic Disorders
, 20
(5)
pp. 423-427.
10.1684/epd.2018.0992.
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Pironti, E;
Salpietro, V;
Cucinotta, F;
Granata, F;
Mormina, E;
Efthymiou, S;
Scuderi, C;
... Di Rosa, G; + view all
(2018)
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.
Journal of Neurogenetics
, 32
(4)
pp. 316-321.
10.1080/01677063.2018.1476510.
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Salpietro, V;
Efthymiou, S;
Manole, A;
Maurya, B;
Wiethoff, S;
Ashokkumar, B;
Cutrupi, MC;
... Houlden, H; + view all
(2017)
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Hum Mutat
10.1002/humu.23368.
(In press).
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Salpietro, V;
Lin, W;
Delle Vedove, A;
Storbeck, M;
Liu, Y;
Efthymiou, S;
Manole, A;
... Houlden, H; + view all
(2017)
Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome.
Annals of Neurology
, 81
(4)
pp. 597-603.
10.1002/ana.24905.
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Salpietro, V;
Malintan, NT;
Llano-Rivas, I;
Spaeth, CG;
Efthymiou, S;
Striano, P;
Vandrovcova, J;
... Houlden, H; + view all
(2019)
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
American Journal of Human Genetics
, 104
(4)
pp. 721-730.
10.1016/j.ajhg.2019.02.016.
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Salpietro, V;
Manole, A;
Efthymiou, S;
Houlden, H;
(2018)
A Review of Copy Number Variants in Inherited Neuropathies.
[Review].
Current Genomics
, 19
(6)
pp. 412-419.
10.2174/1389202919666180330153316.
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Salpietro, V;
Perez-Dueñas, B;
Nakashima, K;
San Antonio-Arce, V;
Manole, A;
Efthymiou, S;
Vandrovcova, J;
... Houlden, H; + view all
(2018)
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Movement Disorders
, 33
(3)
pp. 482-488.
10.1002/mds.27286.
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Salpietro, V;
Zollo, M;
Vandrovcova, J;
Ryten, M;
Botia, JA;
Ferrucci, V;
Manole, A;
... Houlden, H; + view all
(2017)
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
Brain
, 140
(8)
e49.
10.1093/brain/awx155.
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Sheldon, CA;
Paley, GL;
Xiao, R;
Kesler, A;
Eyal, O;
Ko, MW;
Boisvert, CJ;
... Liu, GT; + view all
(2016)
Pediatric Idiopathic Intracranial Hypertension Age, Gender, and Anthropometric Features at Diagnosis in a Large, Retrospective, Multisite Cohort.
Ophthalmology
, 123
(11)
pp. 2424-2431.
10.1016/j.ophtha.2016.08.004.
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Zollo, M;
Ahmed, M;
Ferrucci, V;
Salpietro, V;
Asadzadeh, F;
Carotenuto, M;
Maroofian, R;
... Baple, EL; + view all
(2017)
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
BRAIN
, 140
(4)
pp. 940-952.
10.1093/brain/awx014.
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Thesis
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Salpietro Damiano, Vincenzo;
(2024)
Dissecting the Genetic Basis of Synaptic Transmission and Neurodevelopmental Disorders.
Doctoral thesis (Ph.D), UCL (University College London).
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