Iulia Blesneac

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Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions

T. Hornemann, B. Kalmar, L. Greensmith, 2021, Cell reports. Medicine.

Defining the Functional Role of NaV1.7 in Human Nociception

Andreas C. Themistocleous, I. Tracey, J. Serra, 2019, Neuron.

Deﬁning the Functional Role of Na V 1.7 in Human Nociception

David L. Bennett, Andreas C. Themistocleous, I. Tracey, 2019 .

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

C. Duyckaerts, A. Durr, A. Brice, 2015, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Assaying the proton transport and regulation of UCP1 using solid supported membranes

B. Miroux, M. Zoonens, S. Ravaud, 2012, European Biophysics Journal.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy

Andreas C. Themistocleous, A. Rice, D. Bennett, 2017, Pain.

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

T. Strom, M. Polak, P. Lory, 2016, EBioMedicine.

Crystallization of the membrane protein hVDAC1 produced in cell-free system.

J. Lenormand, A. Deniaud, L. Liguori, 2010, Biochimica et biophysica acta.

Phosphorylation of the Cav3.2 T-type calcium channel directly regulates its gating properties

P. Lory, F. Vandermoere, J. Chemin, 2015, Proceedings of the National Academy of Sciences.

Assaying the proton transport and regulation of UCP1 using solid supported membranes

B. Miroux, M. Zoonens, S. Ravaud, 2012, European Biophysics Journal.

Production of UCP1 a membrane protein from the inner mitochondrial membrane using the cell free expression system in the presence of a fluorinated surfactant.

E. Pebay-Peyroula, B. Miroux, M. Zoonens, 2012, Biochimica et biophysica acta.

The Novel Activity of Carbamazepine as an Activation Modulator Extends from NaV1.7 Mutations to the NaV1.8-S242T Mutant Channel from a Patient with Painful Diabetic Neuropathy

David L. Bennett, Andreas C. Themistocleous, S. Dib-Hajj, 2018, Molecular Pharmacology.

A novel phospho-modulatory mechanism contributes to the calcium-dependent regulation of T-type Ca2+ channels

P. Lory, S. Todorovic, J. Chemin, 2019, Scientific Reports.

Rare NaV 1 . 7 variants associated with painful diabetic peripheral neuropathy

Andreas C. Themistocleous, A. Rice, S. Tesfaye, 2017 .

Investigating genotype–phenotype relationship of extreme neuropathic pain disorders in a UK national cohort

Sri V. V. Deevi, C. Woods, K. Megy, 2023, Brain communications.

CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing

J. Lazniewska, R. Pamphlett, N. Weiss, 2016, Channels.