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Suggested authors matching "AUTH:Lia A" with an ORCID

Andrea Lia
Università del Salento
3
Publications
52
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Anne-Sophie LIA
Faculty of Medicine
1
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59
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CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants.
Loret C, Pauset A, Faye PA, Prouzet-Mauleon V, Pyromali I, Nizou A, Miressi F, Sturtz F, Favreau F, Turcq B, Lia AS
Biomedicines, 12(7):1550, 12 Jul 2024
Cited by: 0 articles | PMID: 39062123 | PMCID: PMC11274897
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Cerebellar ataxia, neuropathy and vestibular areflexia syndrome: a neurogenic cough prototype.
Guilleminault L, Mazzone SB, Chazelas P, Frachet S, Lia AS, Magy L
ERJ Open Res, 10(4):24-2024, 29 Jul 2024
Cited by: 0 articles | PMID: 39076534 | PMCID: PMC11284589
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Early Peripheral Nerve Involvement at the Time of Coughing in Patients With <i>RFC1</i> Intronic Expansion.
Frachet S, Chazelas P, Magy L, Cintas P, Brouquières D, Girardie P, Espagno L, Melloni B, Guilleminault L, Lia AS
Neurol Genet, 10(4):e200166, 19 Jul 2024
Cited by: 0 articles | PMID: 39507594 | PMCID: PMC11271393
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Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.
Benslimane N, Loret C, Chazelas P, Favreau F, Faye PA, Lejeune F, Lia AS
Pharmaceuticals (Basel), 17(3):314, 28 Feb 2024
Cited by: 2 articles | PMID: 38543100 | PMCID: PMC10975577
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Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.
Tax G, Guay KP, Pantalone L, Ceci M, Soldà T, Hitchman CJ, Hill JC, Vasiljević S, Lia A, Modenutti CP, Straatman KR, Santino A, Molinari M, Zitzmann N, Hebert DN, Roversi P, Trerotola M
Traffic, 25(1):e12927, 01 Jan 2024
Cited by: 1 article | PMID: 38272446
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A quinolin-8-ol sub-millimolar inhibitor of UGGT, the ER glycoprotein folding quality control checkpoint.
Guay KP, Ibba R, Kiappes JL, Vasiljević S, Bonì F, De Benedictis M, Zeni I, Le Cornu JD, Hensen M, Chandran AV, Kantsadi AL, Caputo AT, Blanco Capurro JI, Bayo Y, Hill JC, Hudson K, Lia A, Brun J, Withers SG, [...] Roversi P
iScience, 26(10):107919, 20 Sep 2023
Cited by: 2 articles | PMID: 37822503 | PMCID: PMC10562782
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Ion Channels and Ionotropic Receptors in Astrocytes: Physiological Functions and Alterations in Alzheimer's Disease and Glioblastoma.
Lia A, Di Spiezio A, Vitalini L, Tore M, Puja G, Losi G
Life (Basel), 13(10):2038, 11 Oct 2023
Cited by: 1 article | PMID: 37895420 | PMCID: PMC10608464
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Protein target highlights in CASP15: Analysis of models by structure providers.
Alexander LT, Durairaj J, Kryshtafovych A, Abriata LA, Bayo Y, Bhabha G, Breyton C, Caulton SG, Chen J, Degroux S, Ekiert DC, Erlandsen BS, Freddolino PL, Gilzer D, Greening C, Grimes JM, Grinter R, Gurusaran M, Hartmann MD, [...] Schwede T
Proteins, 91(12):1571-1599, 26 Jul 2023
Cited by: 9 articles | PMID: 37493353 | PMCID: PMC10792529
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Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene.
Benslimane N, Miressi F, Loret C, Richard L, Nizou A, Pyromali I, Faye PA, Favreau F, Lejeune F, Lia AS
Pharmaceuticals (Basel), 16(7):1034, 21 Jul 2023
Cited by: 1 article | PMID: 37513945 | PMCID: PMC10385573
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Author Correction: Astrocytes mediate long-lasting synaptic regulation of ventral tegmental area dopamine neurons.
Requie LM, Gómez-Gonzalo M, Speggiorin M, Managò F, Melone M, Congiu M, Chiavegato A, Lia A, Zonta M, Losi G, Henriques VJ, Pugliese A, Pacinelli G, Marsicano G, Papaleo F, Muntoni AL, Conti F, Carmignoto G
Nat Neurosci, 26(6):1129, 01 Jun 2023
Cited by: 0 articles | PMID: 37186120
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EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L, Kuntzer T, Ion IM, Lia AS, Bouligand J, Poinsignon V
J Peripher Nerv Syst, 28(3):359-367, 18 Jun 2023
Cited by: 0 articles | PMID: 37306961
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Rescue of secretion of a rare-disease associated mis-folded mutant glycoprotein inUGGT1knock-out mammalian cells
Tax G, Guay KP, Soldà T, Hitchman CJ, Hill JC, Vasiljević S, Lia A, Modenutti CP, Straatman KR, Santino A, Molinari M, Zitzmann N, Hebert DN, Roversi P, Trerotola M
bioRxiv, 31 May 2023
Cited by: 0 articles | PPR: PPR667796
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The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.
Pyromali I, Richard L, Derouault P, Vallat JM, Ghorab K, Magdelaine C, Sturtz F, Favreau F, Lia AS
Biomedicines, 11(6):1565, 28 May 2023
Cited by: 0 articles | PMID: 37371660 | PMCID: PMC10295399
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Two decades of astrocytes in neurovascular coupling.
Lia A, Di Spiezio A, Speggiorin M, Zonta M
Front Netw Physiol, 3:1162757, 03 Apr 2023
Cited by: 14 articles | PMID: 37078069 | PMCID: PMC10106690
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Rescue of astrocyte activity by the calcium sensor STIM1 restores long-term synaptic plasticity in female mice modelling Alzheimer's disease.
Lia A, Sansevero G, Chiavegato A, Sbrissa M, Pendin D, Mariotti L, Pozzan T, Berardi N, Carmignoto G, Fasolato C, Zonta M
Nat Commun, 14(1):1590, 22 Mar 2023
Cited by: 10 articles | PMID: 36949142 | PMCID: PMC10033875
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Repeat Expansions of RFC1 in Refractory Chronic Cough: A Missing Piece of the Puzzle?
Guilleminault L, Chazelas P, Melloni B, Magdelaine C, Villeneuve T, Brouquières D, Lia AS, Magy L
Chest, 163(4):911-915, 17 Nov 2022
Cited by: 9 articles | PMID: 36403641
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Mitochondrial Ca²⁺ Signaling and Bioenergetics in Alzheimer's Disease.
Arnst N, Redolfi N, Lia A, Bedetta M, Greotti E, Pizzo P
Biomedicines, 10(12):3025, 24 Nov 2022
Cited by: 5 articles | PMID: 36551781 | PMCID: PMC9775979
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Astrocytes mediate long-lasting synaptic regulation of ventral tegmental area dopamine neurons.
Requie LM, Gómez-Gonzalo M, Speggiorin M, Managò F, Melone M, Congiu M, Chiavegato A, Lia A, Zonta M, Losi G, Henriques VJ, Pugliese A, Pacinelli G, Marsicano G, Papaleo F, Muntoni AL, Conti F, Carmignoto G, Carmignoto G
Nat Neurosci, 25(12):1639-1650, 17 Nov 2022
Cited by: 12 articles | PMID: 36396976
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Perivascular and endomysial macrophages expressing VEGF and CXCL12 promote angiogenesis in anti-HMGCR immune-mediated necrotizing myopathy.
Lia A, Annese T, Fornaro M, Giannini M, D'Abbicco D, Errede M, Lorusso L, Amati A, Tampoia M, Trojano M, Virgintino D, Ribatti D, Serlenga L, Iannone F, Girolamo F
Rheumatology (Oxford), 61(8):3448-3460, 01 Aug 2022
Cited by: 7 articles | PMID: 34864921
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Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment.
Magy L, Chazelas P, Richard L, Deschamps N, Frachet S, Vallat JM, Magdelaine C, Favreau F, Bessaguet F, Lia AS, Duchesne M
Biomedicines, 10(8):2046, 22 Aug 2022
Cited by: 4 articles | PMID: 36009593 | PMCID: PMC9405877
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HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Morel V, Campana-Salort E, Boyer A, Esselin F, Walther-Louvier U, Querin G, Latour P, Lia AS, Magdelaine C, Beze-Beyrie P, Behin A, Delague V, Levy N, Stojkovic T, Attarian S, Bonello-Palot N
Clin Genet, 102(5):379-390, 16 Aug 2022
Cited by: 3 articles | PMID: 35882622 | PMCID: PMC9805104
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A quinolin-8-ol sub-millimolar inhibitor of UGGT, the ER glycoprotein folding quality control checkpoint
Guay KP, Ibba R, Kiappes J, De Benedictis M, Zeni I, Le Cornu JD, Hensen M, Chandran AV, Kantsadi AL, Caputo AT, Blanco Capurro JI, Bayo Y, Hill JC, Hudson K, Lia A, Vasiljević S, Modenutti CP, Withers SG, Martí M, [...] Roversi P
bioRxiv, 21 Jun 2022
Cited by: 0 articles | PPR: PPR508501
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Dysbindin-1A modulation of astrocytic dopamine and basal ganglia dependent behaviors relevant to schizophrenia.
Mastrogiacomo R, Trigilio G, Devroye C, Dautan D, Ferretti V, Losi G, Caffino L, Orso G, Marotta R, Maltese F, Vitali E, Piras G, Forgiarini A, Pacinelli G, Lia A, Rothmond DA, Waddington JL, Drago F, Fumagalli F, [...] Papaleo F
Mol Psychiatry, 27(10):4201-4217, 11 Jul 2022
Cited by: 3 articles | PMID: 35821415
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A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T, Pion E, Cossée M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia AS, Magdelaine C, Francou B, Guiochon-Mantel A, Malinge MC, Leguern E, Lévy N, Attarian S, Latour P, Bonello-Palot N
Genes (Basel), 13(2):318, 09 Feb 2022
Cited by: 3 articles | PMID: 35205364 | PMCID: PMC8871532
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From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
Pyromali I, Benslimane N, Favreau F, Goizet C, Lazaro L, Vitry M, Derouault P, Sturtz F, Magdelaine C, Lia AS
J Pers Med, 12(2):212, 03 Feb 2022
Cited by: 5 articles | PMID: 35207700 | PMCID: PMC8878780
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Search life-sciences literature (45,103,589 articles, preprints and more)

Suggested authors matching "AUTH:Lia A" with an ORCID

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CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome: a neurogenic cough prototype.

Early Peripheral Nerve Involvement at the Time of Coughing in Patients With <i>RFC1</i> Intronic Expansion.

Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.

Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.

A quinolin-8-ol sub-millimolar inhibitor of UGGT, the ER glycoprotein folding quality control checkpoint.

Ion Channels and Ionotropic Receptors in Astrocytes: Physiological Functions and Alterations in Alzheimer's Disease and Glioblastoma.

Protein target highlights in CASP15: Analysis of models by structure providers.

Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene.

Author Correction: Astrocytes mediate long-lasting synaptic regulation of ventral tegmental area dopamine neurons.

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Rescue of secretion of a rare-disease associated mis-folded mutant glycoprotein inUGGT1knock-out mammalian cells

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.

Two decades of astrocytes in neurovascular coupling.

Rescue of astrocyte activity by the calcium sensor STIM1 restores long-term synaptic plasticity in female mice modelling Alzheimer's disease.

Repeat Expansions of RFC1 in Refractory Chronic Cough: A Missing Piece of the Puzzle?

Mitochondrial Ca²⁺ Signaling and Bioenergetics in Alzheimer's Disease.

Astrocytes mediate long-lasting synaptic regulation of ventral tegmental area dopamine neurons.

Perivascular and endomysial macrophages expressing VEGF and CXCL12 promote angiogenesis in anti-HMGCR immune-mediated necrotizing myopathy.

Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment.

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.

A quinolin-8-ol sub-millimolar inhibitor of UGGT, the ER glycoprotein folding quality control checkpoint

Dysbindin-1A modulation of astrocytic dopamine and basal ganglia dependent behaviors relevant to schizophrenia.

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.

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