Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
Molecular and Neurological Features of MELAS Syndrome in Paediatric Patients: A Case Series and Review of the Literature
Mal Genet Genomic Med 10:e1955, Seed,L.M.,et al, 2022
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
Lancet 350:1511-1515, 14901997., Joutel,A.,et al, 1997
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011