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Page 1
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M… See abstract for full author list ➔ Nava C, et al. Nat Genet. 2025 Jun;57(6):1374-1388. doi: 10.1038/s41588-025-02184-4. Epub 2025 May 16. Nat Genet. 2025. PMID: 40379786 Free PMC article.
Trafficking of a multifunctional protein by endosomal microautophagy: linking two independent unconventional secretory pathways.
Chauhan AS, Kumar M, Chaudhary S, Dhiman A, Patidar A, Jakhar P, Jaswal P, Sharma K, Sheokand N, Malhotra H, Raje CI, Raje M. Chauhan AS, et al. FASEB J. 2019 Apr;33(4):5626-5640. doi: 10.1096/fj.201802102R. Epub 2019 Jan 14. FASEB J. 2019. PMID: 30640524
S., Kumar, M., Chaudhary, S., Dhiman, A., Patidar, A., Jakhar, P., Jaswal, P., Sharma, K., Sheokand, N., Malhotra, H., Raje, C. I., Raje. M. Trafficking of a multifunctional protein by endosomal microautophagy: linking two independent unconventional secretory pathwa …
S., Kumar, M., Chaudhary, S., Dhiman, A., Patidar, A., Jakhar, P., Jaswal, P., Sharma, K., Sheokand, N., Malhotra, H., Raje, C …
Stereotypies in a Patient With Wilson Disease.
Mehta S, Mahajan S, Singh J, Jakhar RK, Baishya J, Lal V. Mehta S, et al. Neurology. 2023 Oct 24;101(17):763. doi: 10.1212/WNL.0000000000207641. Epub 2023 Jul 24. Neurology. 2023. PMID: 37487744 Free PMC article. No abstract available.
Resting-State EEG Alpha Rhythms Are Related to CSF Tau Biomarkers in Prodromal Alzheimer's Disease.
Del Percio C, Lizio R, Lopez S, Noce G, Carpi M, Jakhar D, Soricelli A, Salvatore M, Yener G, Güntekin B, Massa F, Arnaldi D, Famà F, Pardini M, Ferri R, Carducci F, Lanuzza B, Stocchi F, Vacca L, Coletti C, Marizzoni M, Taylor JP, Hanoğlu L, Yılmaz NH, Kıyı İ, Özbek-İşbitiren Y, D'Anselmo A, Bonanni L, Biundo R, D'Antonio F, Bruno G, Antonini A, Giubilei F, Farotti L, Parnetti L, Frisoni GB, Babiloni C. Del Percio C, et al. Int J Mol Sci. 2025 Jan 3;26(1):356. doi: 10.3390/ijms26010356. Int J Mol Sci. 2025. PMID: 39796211 Free PMC article.
An international database provided clinical-demographic-rsEEG datasets for cognitively unimpaired older (Healthy; N = 45), ADMCI (N = 70), and noADMCI (N = 45) participants. The rsEEG rhythms spanned individual delta, theta, and alpha frequency bands. ...
An international database provided clinical-demographic-rsEEG datasets for cognitively unimpaired older (Healthy; N = 45), ADMCI ( …
Deep Learning Reveals Liver MRI Features Associated With PNPLA3 I148M in Steatotic Liver Disease.
Chen Y, Laevens BPM, Lemainque T, Müller-Franzes GA, Seibel T, Dlugosch C, Clusmann J, Koop PH, Gong R, Liu Y, Jakhar N, Cao F, Schophaus S, Raju TB, Raptis AA, van Haag F, Joy J, Loomba R, Valenti L, Kather JN, Brinker TJ, Herzog M, Costa IG, Hernando D, Schneider KM, Truhn D, Schneider CV. Chen Y, et al. Liver Int. 2025 Jul;45(7):e70164. doi: 10.1111/liv.70164. Liver Int. 2025. PMID: 40478199 Free PMC article.
Self-harm and suicide attempts in Schizophrenia.
Jakhar K, Beniwal RP, Bhatia T, Deshpande SN. Jakhar K, et al. Asian J Psychiatr. 2017 Dec;30:102-106. doi: 10.1016/j.ajp.2017.08.012. Epub 2017 Aug 18. Asian J Psychiatr. 2017. PMID: 28865243 Free PMC article.
We assessed the prevalence of risk of deliberate self-harm and suicide attempts, along with associated socio-demographic and clinical factors in a group of SZ outpatients (n=61) as part of a larger study on overall schizophrenia-associated risks. AIMS: To investigate facto …
We assessed the prevalence of risk of deliberate self-harm and suicide attempts, along with associated socio-demographic and clinical factor …
Abnormal electroencephalographic rhythms from quiet wakefulness to light sleep in Alzheimer's disease patients with mild cognitive impairment.
Salamone EM, Carpi M, Noce G, Del Percio C, Lopez S, Lizio R, Jakhar D, Eldellaa A, Isaza VH, Bölükbaş B, Soricelli A, Salvatore M, Güntekin B, Yener G, Massa F, Arnaldi D, Famà F, Pardini M, Ferri R, Salemi M, Lanuzza B, Stocchi F, Vacca L, Coletti C, Marizzoni M, Taylor JP, Hanoğlu L, Yılmaz NH, Kıyı İ, Kula H, Frisoni GB, Cuoco S, Barone P, D'Anselmo A, Bonanni L, Biundo R, D'Antonio F, Bruno G, Giubilei F, Antonini A, Babiloni C. Salamone EM, et al. Clin Neurophysiol. 2025 Mar;171:164-181. doi: 10.1016/j.clinph.2025.01.012. Epub 2025 Jan 31. Clin Neurophysiol. 2025. PMID: 39914158 Free article.
Cortical source activities were computed using the eLORETA software. RESULTS: ADMCI (t-ADMCI, N = 18) over Nold (t-Nold, N = 11) participants were characterized by greater frontal EEG delta source activities and a lesser reduction (reactivity) in the posterior alpha …
Cortical source activities were computed using the eLORETA software. RESULTS: ADMCI (t-ADMCI, N = 18) over Nold (t-Nold, N = 1 …
Contemporary progress in the green synthesis of spiro-thiazolidines and their medicinal significance: a review.
Dhadda S, Sharma S, Jakhar P, Sharma H. Dhadda S, et al. RSC Adv. 2023 Jan 25;13(6):3723-3742. doi: 10.1039/d2ra07474e. eCollection 2023 Jan 24. RSC Adv. 2023. PMID: 36756557 Free PMC article. Review.
This study details works regarding the total amalgamation of spiro-thiazolidines under N- and S-containing heterocycles. Furthermore, this article summarizes the developments of artificially and pharmaceutically important spiro-thiazolidine candidates....
This study details works regarding the total amalgamation of spiro-thiazolidines under N- and S-containing heterocycles. Furthermore, …
40 results