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Page 1
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.
Ganesh VS, Riquin K, Chatron N, Lamar KM, Aziz MC, Monin P, O'Leary M, Goodrich JK, Garimella KV, England E, Yoon E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S; Undiagnosed Diseases Network; Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Isidor B, Pengam A, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: kayani s. medRxiv [Preprint]. 2024 Feb 7:2024.01.31.24301497. doi: 10.1101/2024.01.31.24301497. medRxiv. 2024. PMID: 38496558 Free PMC article. Preprint.
Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Kayani S, Edgar VB, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM. Kayani S, et al. Res Sq [Preprint]. 2024 Jun 26:rs.3.rs-3983366. doi: 10.21203/rs.3.rs-3983366/v1. Res Sq. 2024. Update in: Orphanet J Rare Dis. 2024 Dec 19;19(1):468. doi: 10.1186/s13023-024-03448-8 PMID: 38978590 Free PMC article. Updated. Preprint.
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
Kayani S, BordesEdgar V, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM. Kayani S, et al. Orphanet J Rare Dis. 2024 Dec 19;19(1):468. doi: 10.1186/s13023-024-03448-8. Orphanet J Rare Dis. 2024. PMID: 39702211 Free PMC article.
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'Leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: kayani s. N Engl J Med. 2024 Oct 24;391(16):1511-1518. doi: 10.1056/NEJMoa2400718. N Engl J Med. 2024. PMID: 39442041
Response to the letter by Josef Finsterer, MD, PhD.
Kayani S. Kayani S. Eur J Paediatr Neurol. 2024 Jul;51:147. doi: 10.1016/j.ejpn.2024.06.010. Epub 2024 Jun 21. Eur J Paediatr Neurol. 2024. PMID: 38926008 No abstract available.
79 results