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1.
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
Cereb Cortex
; 33(12): 7454-7467, 2023 06 08.
Article
in English
| MEDLINE | ID: mdl-36977636
2.
Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents.
Neuropediatrics
; 54(1): 14-19, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36543183
3.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Am J Hum Genet
; 102(5): 858-873, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29727687
4.
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis.
Ann Neurol
; 88(1): 148-159, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32314416
5.
MutationDistiller: user-driven identification of pathogenic DNA variants.
Nucleic Acids Res
; 47(W1): W114-W120, 2019 07 02.
Article
in English
| MEDLINE | ID: mdl-31106342
6.
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
Int J Mol Sci
; 22(10)2021 May 19.
Article
in English
| MEDLINE | ID: mdl-34069457
7.
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
J Med Genet
; 56(3): 164-175, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30487246
8.
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Am J Hum Genet
; 98(3): 473-489, 2016 Mar 03.
Article
in English
| MEDLINE | ID: mdl-26924529
9.
Phenotero: Annotate as you write.
Clin Genet
; 95(2): 287-292, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30417324
10.
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
Hum Genet
; 136(7): 903-910, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28540413
11.
Atypical NMDA receptor expression in a diffuse astrocytoma, MYB- or MYBL1-altered as a trigger for autoimmune encephalitis.
Acta Neuropathol
; 144(2): 385-389, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35727368
12.
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
Am J Med Genet A
; 170(9): 2274-81, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27282648
13.
SIGLEC1 (CD169) as a potential diagnostical screening marker for monogenic interferonopathies.
Pediatr Allergy Immunol
; 32(3): 621-625, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33099809
14.
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
J Med Genet
; 52(9): 607-11, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26048982
15.
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.
J Inherit Metab Dis
; 38(5): 983-4, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25647544
16.
CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.
J Med Genet
; 50(8): 529-33, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23729504
17.
Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease.
Cells
; 12(4)2023 02 13.
Article
in English
| MEDLINE | ID: mdl-36831273
18.
Pediatric de novo movement disorders and ataxia in the context of SARS-CoV-2.
J Neurol
; 270(10): 4593-4607, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37515734
19.
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis.
Neurol Neuroimmunol Neuroinflamm
; 10(3)2023 05.
Article
in English
| MEDLINE | ID: mdl-36948591
20.
Modified Zipper Method, a Promising Treatment Option in Severe Pediatric Immune-Mediated Neurologic Disorders.
J Child Neurol
; 37(6): 505-516, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35435761