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Page 1
SEPN1-related myopathies: clinical course in a large cohort of patients.
Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F. Scoto M, et al. Among authors: childs am. Neurology. 2011 Jun 14;76(24):2073-8. doi: 10.1212/WNL.0b013e31821f467c. Neurology. 2011. PMID: 21670436
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
Illingworth MA, Meyer E, Chong WK, Manzur AY, Carr LJ, Younis R, Hardy C, McDonald F, Childs AM, Stewart B, Warren D, Kneen R, King MD, Hayflick SJ, Kurian MA. Illingworth MA, et al. Among authors: childs am. Mol Genet Metab. 2014 Jun;112(2):183-9. doi: 10.1016/j.ymgme.2014.03.008. Epub 2014 Mar 29. Mol Genet Metab. 2014. PMID: 24745848 Free PMC article.
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Among authors: childs am. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM, Bunyan DJ, Giacopuzzi E, Walker S, Gazdagh G, Thomas NS, Straub V, Childs AM, Forsyth J, Vogt J, Khan S, Willis TA, Taylor JC, Pagnamenta AT. Watts LM, et al. Among authors: childs am. Brain Commun. 2024 Sep 25;6(5):fcae330. doi: 10.1093/braincomms/fcae330. eCollection 2024. Brain Commun. 2024. PMID: 39386087 Free PMC article. No abstract available.
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Lord J, Oquendo CJ, Wai HA, Holloway JG, Martin-Geary A, Blakes AJM, Arciero E, Domcke S, Childs AM, Low K, Rankin J; Genomics England Research Consortium; Baralle D, Martin HC, Whiffin N. Lord J, et al. Among authors: childs am. Genet Med. 2024 Dec;26(12):101249. doi: 10.1016/j.gim.2024.101249. Epub 2024 Sep 3. Genet Med. 2024. PMID: 39243181 Free article.
UK research priority setting for childhood neurological conditions.
Cadwgan J, Goodwin J, Babcock B, Brick M, Chin R, Easton A, Green B, Hannan S, Inward RPD, Kinsella S, King C, Kurian MA, Levine P, Mallick A, Parr J, Partridge CA, Amin S, Lumsden D, Cross JH, Lim MJ; UK Childhood Neurological Disorders PSP Group. Cadwgan J, et al. Dev Med Child Neurol. 2024 Dec;66(12):1590-1599. doi: 10.1111/dmcn.16021. Epub 2024 Jul 16. Dev Med Child Neurol. 2024. PMID: 39014885
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.
Trucco F, Ridout D, Weststrate H, Scoto M, Rohwer A, Coratti G, Main ML, Mayhew AG, Montes J, De Sanctis R, Pane M, Pera MC, Sansone VA, Albamonte E, D'Amico A, Bruno C, Messina SS, Childs AM, Willis T, Ong MT, Servais L, Majumdar A, Hughes I, Marini-Bettolo C, Parasuraman D, Gowda VL, Baranello G, Bertini ES, De Vivo DC, Darras BT, Day JW, Mayer O, Zolkipli-Cunningham Z, Finkel RS, Mercuri E, Muntoni F; for iSMAc. Trucco F, et al. Among authors: childs am. Neurol Clin Pract. 2024 Jun;14(3):e200298. doi: 10.1212/CPJ.0000000000200298. Epub 2024 May 17. Neurol Clin Pract. 2024. PMID: 38932995
88 results