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Showing articles 0 to 16 of 16

Filter Applied: exome sequencing (Click to remove)

A 26-Year-OldWoman with Headache and Eosinophilia
Neurol 104:e213434, Goh,W.G.W.,et al, 2025

Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022

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

A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025

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 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025

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

Ribbon-Like Cortical Calcifications in Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type
Neurol 106:e214464, Chen,Y.,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

A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024

Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024

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

A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018

SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016

Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014

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



Showing articles 0 to 16 of 16