Novelli A

Title : Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS) - Bainbridge_2022_Brain__

Author(s) : Bainbridge MN , Mazumder A , Ogasawara D , Abou Jamra R , Bernard G , Bertini E , Burglen L , Cope H , Crawford A , Derksen A , Dure L , Gantz E , Koch-Hogrebe M , Hurst ACE , Mahida S , Marshall P , Micalizzi A , Novelli A , Peng H , Rodriguez D , Robbins SL , Rutledge SL , Scalise R , Schliesske S , Shashi V , Srivastava S , Thiffault I , Topol S , Qebibo L , Wieczorek D , Cravatt B , Haricharan S , Torkamani A , Friedman J

Ref : Brain , : , 2022

Abstract :

PubMedSearch : Bainbridge_2022_Brain__

PubMedID: 35737950

Gene_locus related to this paper: human-DAGLA

Title : Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 -

Author(s) : Travaglini L , Aiello C , Alesi V , Loddo S , Novelli A , Tozzi G , Bertini E , Leuzzi V , Brancati F

Ref : Brain Dev , 39 :182 , 2017

PubMedID: 27639779

Novelli A

References (2)

1. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS) - Bainbridge_2022_Brain__

2. Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 -