Anne Marie Childs

A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity

C. Jimenez‐Mallebrera, Silvia Torelli, Lucy Feng et al. · Brain Pathology · 2008 · 125 citations · Full text

Life Sciences, Biochemistry, Genetics +17

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

Marjorie Illingworth, Esther Meyer, W.K. Chong et al. · Molecular Genetics and Metabolism · 2014 · 85 citations · Full text

Medicine, Neurology, Pediatrics +17

<i>SEPN1</i> -related myopathies

Mariacristina Scoto, Sebahattin Çirak, R. Mein et al. · Neurology · 2011 · 84 citations

Life Sciences, Genetics, Pediatrics +14

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the <i>GARS</i> gene

Paul A. James, M. Zameel Cader, F. Muntoni et al. · Neurology · 2006 · 81 citations

Life Sciences, Genetics, Molecular Genetics +17

MR features of developing periventricular white matter in preterm infants: evidence of glial cell migration.

Anne Marie Childs, Luca A. Ramenghi, David Evans et al. · PubMed · 1998 · 71 citations · Full text

Medicine, Pediatrics, Radiology +17