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Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Lesca G" with an ORCID

Gaetan Lesca
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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, [...] Koenig M
Brain, 147(11):3681-3689, 01 Nov 2024
Cited by: 1 article | PMID: 38884572
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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Epi25 Collaborative
Nat Neurosci, 27(10):1864-1879, 03 Oct 2024
Cited by: 0 articles | PMID: 39363051
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Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.
Mertens A, Papadopoulou MT, Papathanasiou Terzi MA, Lesca G, Biela M, Smigiel R, Panagiotakaki E
Epileptic Disord, 05 Sep 2024
Cited by: 0 articles | PMID: 39235869
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Germline mutations in a G protein identify signaling cross-talk in T cells.
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, [...] Su HC
Science, 385(6715):eadd8947, 20 Sep 2024
Cited by: 1 article | PMID: 39298586
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, [...] Maroofian R
Genet Med, 101251, 10 Sep 2024
Cited by: 0 articles | PMID: 39275948
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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, [...] Mefford HC
Nat Commun, 15(1):6524, 06 Aug 2024
Cited by: 1 article | PMID: 39107278 | PMCID: PMC11303402
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, [...] Bonnet C
J Med Genet, 61(9):878-885, 29 Aug 2024
Cited by: 0 articles | PMID: 38937076
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Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.
Schneider V, Dupont G, Madinier G, Ramond F, Lesca G, Thauvin-Robinet C, Thomas Q
Cerebellum, 29 Jul 2024
Cited by: 0 articles | PMID: 39073549
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Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.
Haghshenas S, Putoux A, Reilly J, Levy MA, Relator R, Ghosh S, Kerkhof J, McConkey H, Edery P, Lesca G, Besson A, Coubes C, Willems M, Ruiz-Pallares N, Barat-Houari M, Tizzano EF, Valenzuela I, Sabbagh Q, Clayton-Smith J, [...] Sadikovic B
Genet Med, 26(10):101226, 31 Jul 2024
Cited by: 0 articles | PMID: 39097820
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Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.
Moya Quiros V, Adham A, Convers P, Lesca G, Mauguiere F, Soulier H, Arzimanoglou A, Bayat A, Braakman H, Camdessanche JP, Casenave P, Chaton L, Chaix Y, Chochoi M, Depienne C, Desportes V, De Ridder J, Dinkelacker V, Gardella E, [...] Mazzola L
Ann Neurol, 23 Aug 2024
Cited by: 0 articles | PMID: 39177219
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Undiagnosed Diseases Network, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, [...] Campeau PM
Pediatr Neurol, 160:45-53, 20 Jul 2024
Cited by: 0 articles | PMID: 39181022
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Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.
Clara-Hwang A, Stefani S, Lau T, Scala M, Aynekin B, Bernardo P, Madia F, Bakhtadze S, Kaiyrzhanov R, Maroofian R, Zara F, Srinivasan VM, Gowda V, Guliyeva U, Montavont A, Poulat AL, Güleç A, Berger C, Ville DM, [...] Efthymiou S
Neurol Genet, 10(4):e200168, 11 Jul 2024
Cited by: 0 articles | PMID: 39035822 | PMCID: PMC11259532
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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View of healthcare professionals on ultra-rapid genome sequencing and its implementation in clinical routine for critically ill children
Caillot C, Javouhey E, HAYS S, GOUY E, Monin P, Lesca G, Sanlaville D, Chatron N
Research Square, 26 Jul 2024
Cited by: 0 articles | PPR: PPR887483
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Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder
Efthymiou S, Leo CP, Deng C, Zhang K, Lin S, Maroofian R, Kaiyrzhanov R, Lin R, Karagoz I, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, [...] Fu D
medRxiv, 22 Jul 2024
Cited by: 0 articles | PPR: PPR884719
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Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, [...] Coppola A
Epilepsia, 65(9):2728-2750, 02 Jul 2024
Cited by: 0 articles | PMID: 38953796
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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Viora-Dupont E, Robert F, Chassagne A, Pélissier A, Staraci S, Sanlaville D, Edery P, Lesca G, Putoux A, Pons L, Cadenes A, Baurand A, Sawka C, Bertolone G, Spetchian M, Yousfi M, Salvi D, Gautier E, Vitobello A, [...] Faivre L
Eur J Hum Genet, 32(9):1166-1183, 27 May 2024
Cited by: 1 article | PMID: 38802530 | PMCID: PMC11368951
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, [...] Houlden H
medRxiv, 05 May 2024
Cited by: 0 articles | PPR: PPR847981
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, [...] Kristensen AS
Brain, 147(5):1837-1855, 01 May 2024
Cited by: 3 articles | PMID: 38038360
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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, [...] Rubio I
Brain, 147(4):1197-1205, 01 Apr 2024
Cited by: 0 articles | PMID: 38141063
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Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, [...] YWHAG Study Group
Epilepsia, 65(5):1439-1450, 16 Mar 2024
Cited by: 0 articles | PMID: 38491959
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Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, Sammarra I, Gagliardi M, Procopio R, Valentino P, Annesi G, Lesca G, Gambardella A
Epilepsia Open, 9(3):951-959, 27 Mar 2024
Cited by: 1 article | PMID: 38544349 | PMCID: PMC11145607
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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Papadopoulou MT, Muccioli L, Bisulli F, Klotz KA, Fons C, Trivisano M, Kabulashvili T, Specchio N, Lesca G, Arzimanoglou A
Epilepsia Open, 9(3):996-1006, 22 Mar 2024
Cited by: 1 article | PMID: 38517305 | PMCID: PMC11145613
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Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic SLC6A1 Variant: A Case Report.
Leclert V, Laurencin C, Ameli R, Hermier M, Flaus A, Prange S, Lesca G, Thobois S
Neurol Genet, 10(2):e200136, 19 Mar 2024
Cited by: 0 articles | PMID: 38515990 | PMCID: PMC10955334
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Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, [...] Rubboli G
Epilepsia, 65(4):1029-1045, 29 Feb 2024
Cited by: 0 articles | PMID: 38135915
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, [...] Héron D
J Med Genet, 61(2):103-108, 19 Jan 2024
Cited by: 1 article | PMID: 37879892
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1-25 of 324 results

1 2 3 Next ...

Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Lesca G" with an ORCID

Search results

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.

Germline mutations in a G protein identify signaling cross-talk in T cells.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

View of healthcare professionals on ultra-rapid genome sequencing and its implementation in clinical routine for critically ill children

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.

Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic SLC6A1 Variant: A Case Report.

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

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Suggested authors matching "AUTH:Lesca G" with an ORCID Suggested authors have linked their articles in Europe PMC to their ORCID iD. Up to two suggested authors with a matching surname and initial are shown, ordered by the total number of publications they have in Europe PMC.

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