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Showing articles 0 to 11 of 11

Filter Applied: exome sequencing (Click to remove)

A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024

Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026

A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025

Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026

Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025

A 59-Year-Old Man with Acute-Onset Encephalopathy and Aphasia
Neurol 105:e214299, Gutierrez-Abizuri,C.,et al, 2025

A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025

Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025

Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019

Clinical Study of Nine Patients with ReNU Syndrome
, Okamoto,N.,et al,



Showing articles 0 to 11 of 11