Neurogenetics Publications
NYU Langone’s Division of Neurogenetics faculty publish frequently in prestigious, peer-reviewed journals. Here is a selection of their recent publications.
Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease
Journal of the neurological sciences. 2024 Sep 15; 464:123168
Isolated Cervical Cord Infarct in a Neonate
Journal of child neurology. 2024 Aug 23; 8830738241273362
Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease
Journal of neuro-ophthalmology. 2024 Aug 15;
Identifying Lesions of the Corpus Callosum in Patients With Neurofibromatosis Type 1
Pediatric neurology. 2024 Jul ; 156:66-71
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype
American journal of medical genetics. Part A. 2024 Jul ; 194:e63578
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Brain. 2024 Jun 04;
Author Correction: The type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma: the phase 2 FIREFLY-1 trial
Nature medicine. 2024 May ; 30:1500
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease
Pediatric neurology. 2024 Mar 01; 154:51-57