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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Among authors: houlden h. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
Associations of renal function with cerebral small vessel disease and functional outcome in acute intracerebral haemorrhage: A hospital-based prospective cohort study.
Nash PS, Best JG, Ambler G, Wilson D, Banerjee G, Hostettler IC, Seiffge D, Cohen H, Yousry TA, Salman RA, Lip GYH, Brown MM, Muir KW, Houlden H, Jäger HR, Werring DJ; CROMIS-2 collaborators. Nash PS, et al. Among authors: houlden h. J Neurol Sci. 2023 Sep 15;452:120743. doi: 10.1016/j.jns.2023.120743. Epub 2023 Jul 28. J Neurol Sci. 2023. PMID: 37531792
A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation.
Ullah I, Waqas M, Ilyas M, Halim SA, Ahmad A, Dominik N, Ullah W, Abbas M, Aamir M; SYNaPS Study Group; Queen Square Genomics; Houlden H, Efthymiou S, Khan A, Al-Harrasi A. Ullah I, et al. Among authors: houlden h. Genes Dis. 2023 Apr 23;10(6):2263-2266. doi: 10.1016/j.gendis.2023.01.018. eCollection 2023 Nov. Genes Dis. 2023. PMID: 37554178 Free PMC article. No abstract available.
Publisher Correction: The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology.
Benatar M, Wuu J, Huey ED, McMillan CT, Petersen RC, Postuma R, McHutchison C, Dratch L, Arias JJ, Crawley A, Houlden H, McDermott MP, Cai X, Thakur N, Boxer A, Rosen H, Boeve BF, Dacks P, Cosentino S, Abrahams S, Shneider N, Lingor P, Shefner J, Andersen PM, Al-Chalabi A, Turner MR; Attendees of the Second International Pre-Symptomatic ALS Workshop. Benatar M, et al. Among authors: houlden h. Nat Rev Neurol. 2024 Jun;20(6):377. doi: 10.1038/s41582-024-00978-4. Nat Rev Neurol. 2024. PMID: 38811858 No abstract available.
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Alvarez Jerez P, Daida K, Miano-Burkhardt A, Iwaki H, Malik L, Cogan G, Makarious MB, Sullivan R, Vandrovcova J, Ding J, Gibbs JR, Markham A, Nalls MA, Kesharwani RK, Sedlazeck FJ, Casey B, Hardy J, Houlden H, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. Among authors: houlden h. NPJ Parkinsons Dis. 2024 May 24;10(1):108. doi: 10.1038/s41531-024-00723-0. NPJ Parkinsons Dis. 2024. PMID: 38789445 Free PMC article.
The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology.
Benatar M, Wuu J, Huey ED, McMillan CT, Petersen RC, Postuma R, McHutchison C, Dratch L, Arias JJ, Crawley A, Houlden H, McDermott MP, Cai X, Thakur N, Boxer A, Rosen H, Boeve BF, Dacks P, Cosentino S, Abrahams S, Shneider N, Lingor P, Shefner J, Andersen PM, Al-Chalabi A, Turner MR; Attendees of the Second International Pre-Symptomatic ALS Workshop. Benatar M, et al. Among authors: houlden h. Nat Rev Neurol. 2024 Jun;20(6):364-376. doi: 10.1038/s41582-024-00961-z. Epub 2024 May 20. Nat Rev Neurol. 2024. PMID: 38769202 Review.
883 results