Search filters

List of works by Neil Stoodley

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

scientific article published on 28 May 2009

Childhood presentation of COL4A1 mutations

scientific article published in June 2012

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

article published in 2018

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

scientific article

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

scientific article

Every picture does not (always) tell a story ⬇️

scientific article published on April 1, 2013

Initial response of the European Society of Paediatric Radiology and Society for Pediatric Radiology to the Swedish Agency for Health Technology Assessment and Assessment of Social Services' document on the triad of shaken baby syndrome

scientific article published on 23 February 2017

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

scientific article

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

scientific article

Neuronal migration, cerebral cortical development, and cerebral cortical anomalies

scientific article

Neuropsychiatric disease in patients with periventricular heterotopia.

scientific article published on January 2013

Non-accidental head injury in children: gathering the evidence

scientific article published in July 2002

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

scientific article

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

scientific article published in November 2006

Paulina is supported by:

About Paulina

Help