S J Hayflick
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Explore the profile of S J Hayflick including associated specialties, affiliations and a list of published articles.
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Articles
33
Citations
1101
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Recent Articles
1.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
2.
Lee J, Gregory A, Hogarth P, Rogers C, Hayflick S
AJNR Am J Neuroradiol
. 2018 Jan;
39(3):583-588.
PMID: 29371252
Background And Purpose: A detailed delineation of the MR imaging changes in the globus pallidus in pantothenate kinase-associated neurodegeneration will be helpful for diagnosis and monitoring of patients. The aim...
3.
Illingworth M, Meyer E, Chong W, Manzur A, Carr L, Younis R, et al.
Mol Genet Metab
. 2014 Apr;
112(2):183-9.
PMID: 24745848
Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5...
4.
Kruer M, Boddaert N, Schneider S, Houlden H, Bhatia K, Gregory A, et al.
AJNR Am J Neuroradiol
. 2011 Sep;
33(3):407-14.
PMID: 21920862
NBIA characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal movement disorder, intellectual deterioration, and a characteristic deposition of iron in the basal ganglia. The diagnosis of NBIA...
5.
Timmermann L, Pauls K, Wieland K, Jech R, Kurlemann G, Sharma N, et al.
Brain
. 2010 Mar;
133(Pt 3):701-12.
PMID: 20207700
Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom...
6.
Gregory A, Polster B, Hayflick S
J Med Genet
. 2008 Nov;
46(2):73-80.
PMID: 18981035
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenerative disorders characterised by high brain iron and the presence of axonal spheroids, usually limited to the central nervous...
7.
Gregory A, Westaway S, Holm I, Kotzbauer P, Hogarth P, Sonek S, et al.
Neurology
. 2008 Sep;
71(18):1402-9.
PMID: 18799783
Objective: Mutations in the gene encoding phospholipase A(2) group VI (PLA2G6) are associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy (INAD) and idiopathic neurodegeneration with brain iron accumulation (NBIA)....
8.
McNeill A, Birchall D, Hayflick S, Gregory A, Schenk J, Zimmerman E, et al.
Neurology
. 2008 Apr;
70(18):1614-9.
PMID: 18443312
Background: Neurodegeneration with brain iron accumulation (NBIA) defines a group of genetic disorders characterized by brain iron deposition and associated with neuronal death. The known causes of NBIA include pantothenate...
9.
Kuo Y, Hayflick S, Gitschier J
J Inherit Metab Dis
. 2007 Apr;
30(3):310-7.
PMID: 17429753
We asked whether a movement disorder could be elicited by deprivation of pantothenic acid (PA; vitamin B5), the substrate for the enzyme pantothenate kinase 2 (PANK2), which is deficient in...
10.
Westaway S, Gregory A, Hayflick S
J Med Genet
. 2007 Jan;
44(1):e64.
PMID: 17209134
No abstract available.