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Page 1
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Verdura E, et al. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Brain. 2021. PMID: 34415322 Free PMC article.
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Verdura E, Schlüter A, Fernández-Eulate G, Ramos-Martín R, Zulaica M, Planas-Serra L, Ruiz M, Fourcade S, Casasnovas C, López de Munain A, Pujol A. Verdura E, et al. Ann Clin Transl Neurol. 2020 Jan;7(1):105-111. doi: 10.1002/acn3.50967. Epub 2019 Dec 18. Ann Clin Transl Neurol. 2020. PMID: 31854126 Free PMC article.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R. Reichert SC, et al. Clin Genet. 2020 Jul;98(1):91-98. doi: 10.1111/cge.13765. Epub 2020 May 15. Clin Genet. 2020. PMID: 32335897
Case Report: Benign Infantile Seizures Temporally Associated With COVID-19.
García-Howard M, Herranz-Aguirre M, Moreno-Galarraga L, Urretavizcaya-Martínez M, Alegría-Echauri J, Gorría-Redondo N, Planas-Serra L, Schlüter A, Gut M, Pujol A, Aguilera-Albesa S. García-Howard M, et al. Front Pediatr. 2020 Aug 6;8:507. doi: 10.3389/fped.2020.00507. eCollection 2020. Front Pediatr. 2020. PMID: 32850563 Free PMC article.
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Vélez-Santamaría V, Verdura E, Macmurdo C, Planas-Serra L, Schlüter A, Casas J, Martínez JJ, Casasnovas C, Si Y, Thompson SS, Maroofian R, Pujol A. Vélez-Santamaría V, et al. Brain. 2020 Sep 1;143(9):e76. doi: 10.1093/brain/awaa229. Brain. 2020. PMID: 32889549 No abstract available.
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort… See abstract for full author list ➔ Zhang Q, et al. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. Science. 2020. PMID: 32972995 Free PMC article.
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19… See abstract for full author list ➔ Bastard P, et al. Science. 2020 Oct 23;370(6515):eabd4585. doi: 10.1126/science.abd4585. Epub 2020 Sep 24. Science. 2020. PMID: 32972996 Free PMC article.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH; SHMT2 Working Group; Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A. García-Cazorla À, et al. Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w. Epub 2020 Oct 5. Acta Neuropathol. 2020. PMID: 33015733 Free PMC article. No abstract available.
Epigenome-wide association study of COVID-19 severity with respiratory failure.
Castro de Moura M, Davalos V, Planas-Serra L, Alvarez-Errico D, Arribas C, Ruiz M, Aguilera-Albesa S, Troya J, Valencia-Ramos J, Vélez-Santamaria V, Rodríguez-Palmero A, Villar-Garcia J, Horcajada JP, Albu S, Casasnovas C, Rull A, Reverte L, Dietl B, Dalmau D, Arranz MJ, Llucià-Carol L, Planas AM, Pérez-Tur J, Fernandez-Cadenas I, Villares P, Tenorio J, Colobran R, Martin-Nalda A, Soler-Palacin P, Vidal F, Pujol A, Esteller M. Castro de Moura M, et al. EBioMedicine. 2021 Apr;66:103339. doi: 10.1016/j.ebiom.2021.103339. Epub 2021 Apr 15. EBioMedicine. 2021. PMID: 33867313 Free PMC article.
30 results