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De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265.
Hum Mol Genet. 2022.
PMID: 34505148
Free PMC article.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U.
Loong L, et al. Among authors: maxton c.
Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2.
Genet Med. 2023.
PMID: 36322149
Free article.
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PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG.
Bayat A, et al. Among authors: maxton c.
Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18.
Epilepsia. 2022.
PMID: 35179230
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Birmingham Behçet's service: classification of disease and application of the 2014 International Criteria for Behçet's Disease (ICBD) to a UK cohort.
Blake T, Pickup L, Carruthers D, Damato EM, Denniston A, Hamburger J, Maxton C, Mitton D, Murray PI, Nightingale P, Poveda-Gallego A, Richards A, Whallett A, Situnayake D.
Blake T, et al. Among authors: maxton c.
BMC Musculoskelet Disord. 2017 Mar 11;18(1):101. doi: 10.1186/s12891-017-1463-y.
BMC Musculoskelet Disord. 2017.
PMID: 28283043
Free PMC article.
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Don't neglect 'neglect'- an update on post stroke neglect.
Maxton C, Dineen RA, Padamsey RC, Munshi SK.
Maxton C, et al.
Int J Clin Pract. 2013 Apr;67(4):369-78. doi: 10.1111/ijcp.12058.
Int J Clin Pract. 2013.
PMID: 23521329
Review.
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Quantitative proton magnetic resonance spectroscopy of focal brain lesions.
Wilken B, Dechent P, Herms J, Maxton C, Markakis E, Hanefeld F, Frahm J.
Wilken B, et al. Among authors: maxton c.
Pediatr Neurol. 2000 Jul;23(1):22-31. doi: 10.1016/s0887-8994(00)00141-7.
Pediatr Neurol. 2000.
PMID: 10963966
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