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Page 1
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Among authors: emrick l. Cytotherapy. 2024 Jul;26(7):739-748. doi: 10.1016/j.jcyt.2024.03.487. Epub 2024 Apr 1. Cytotherapy. 2024. PMID: 38613540 Review.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: emrick l. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 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: emrick lt. N Engl J Med. 2024 Oct 24;391(16):1511-1518. doi: 10.1056/NEJMoa2400718. N Engl J Med. 2024. PMID: 39442041
Systemic complications of Aicardi Goutières syndrome using real-world data.
Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA. Peixoto de Barcelos I, et al. Among authors: emrick lt. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108578. doi: 10.1016/j.ymgme.2024.108578. Epub 2024 Sep 15. Mol Genet Metab. 2024. PMID: 39332260
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, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Among authors: emrick l. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. Genet Med. 2024. PMID: 39036895 Free article.
161 results