Browse by UCL people
Group by: Type | Date
Number of items: 13.
2022
Kaiyrzhanov, Rauan;
Perry, Luke;
Rocca, Clarissa;
Zaki, Maha S;
Hosny, Heba;
Araujo Martins Moreno, Cristiane;
Phadke, Rahul;
... Maroofian, Reza; + view all
(2022)
GGPS1-associated muscular dystrophy with and without hearing loss.
Annals of Clinical and Translational Neurology
10.1002/acn3.51633.
(In press).
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Laurie, S;
Piscia, D;
Matalonga, L;
Corvó, A;
Fernández-Callejo, M;
Garcia-Linares, C;
Hernandez-Ferrer, C;
... Beltran, S; + view all
(2022)
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Human Mutation: Variation, Informatics and Disease
, 43
(6)
pp. 717-733.
10.1002/humu.24353.
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Natera-de Benito, Daniel;
Jurgens, Julie A;
Yeung, Alison;
Zaharieva, Irina T;
Manzur, Adnan;
DiTroia, Stephanie P;
Di Gioia, Silvio Alessandro;
... Muntoni, Francesco; + view all
(2022)
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Human Mutation
, 43
(4)
pp. 487-498.
10.1002/humu.24333.
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Zaharieva, Irina T;
Scoto, Mariacristina;
Aragon‐Gawinska, Karolina;
Ridout, Deborah;
Doreste, Bruno;
Servais, Laurent;
Muntoni, Francesco;
(2022)
Response of plasma microRNAs
to nusinersen treatment in patients with
SMA.
Annals of Clinical and Translational Neurology
10.1002/acn3.51579.
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2020
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Spitali, P;
Zaharieva, I;
Bohringer, S;
Hiller, M;
Chaouch, A;
Roos, A;
Scotton, C;
... Aartsma-Rus, A; + view all
(2020)
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
European Journal of Human Genetics
10.1038/s41431-019-0563-6.
(In press).
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2019
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Ardicli, D;
Sarkozy, A;
Zaharieva, I;
Deshpande, C;
Bodi, I;
Siddiqui, A;
U-King-Im, JM;
... Muntoni, F; + view all
(2019)
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.
Neuromuscular Disorders
, 29
(6)
pp. 448-455.
10.1016/j.nmd.2019.03.011.
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2018
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Ravenscroft, G;
Zaharieva, I;
Bortolotti, CA;
Lambrughi, M;
Pignataro, M;
Borsari, M;
Sewry, CA;
... Muntoni, F; + view all
(2018)
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Human Molecular Genetics
, 27
(24)
pp. 4263-4272.
10.1093/hmg/ddy320.
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Zaharieva, IT;
Sarkozy, A;
Munot, P;
Manzur, A;
O'Grady, G;
Rendu, J;
Malfatti, E;
... Muntoni, F; + view all
(2018)
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Human Mutation
, 39
(12)
pp. 1980-1994.
10.1002/humu.23635.
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2017
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Lourbakos, A;
Yau, N;
de Bruijn, P;
Hiller, M;
Kozaczynska, K;
Jean-Baptiste, R;
Reza, M;
... Spitali, P; + view all
(2017)
Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.
Scientific Reports
, 7
, Article 17888. 10.1038/s41598-017-17982-y.
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Nasca, A;
Scotton, C;
Zaharieva, I;
Neri, M;
Selvatici, R;
Magnusson, OT;
Gal, A;
... Ghezzi, D; + view all
(2017)
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Human Mutation
, 38
(8)
pp. 970-977.
10.1002/humu.23262.
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2016
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Catapano, F;
Zaharieva, I;
Scoto, M;
Marrosu, E;
Morgan, J;
Muntoni, F;
Zhou, H;
(2016)
Altered Levels of MicroRNA-9,-206, and-132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy.
Molecular Therapy-Nucleic Acids
, 5
, Article e331. 10.1038/mtna.2016.47.
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Schartner, V;
Romero, NB;
Donkervoort, S;
Treves, S;
Munot, P;
Pierson, TM;
Dabaj, I;
... Laporte, J; + view all
(2016)
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathologica
, 133
(4)
pp. 517-533.
10.1007/s00401-016-1656-8.
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2013
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Zaharieva, IT;
Calissano, M;
Scoto, M;
Preston, M;
Cirak, S;
Feng, L;
Collins, J;
... Muntoni, F; + view all
(2013)
Dystromirs as serum biomarkers for monitoring the disease severity in duchenne muscular dystrophy.
PLoS One
, 8
(11)
, Article e80263. 10.1371/journal.pone.0080263.
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