Search details
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38387458
2.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-35218524
3.
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
Int J Mol Sci
; 23(18)2022 Sep 11.
Article
in English
| MEDLINE | ID: mdl-36142455
4.
Distal motor neuropathy associated with novel EMILIN1 mutation.
Neurobiol Dis
; 137: 104757, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31978608
5.
The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.
Am J Pathol
; 189(2): 354-369, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30448410
6.
Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy.
Int J Mol Sci
; 21(2)2020 Jan 12.
Article
in English
| MEDLINE | ID: mdl-31940887
7.
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Brain
; 141(4): 1000-1016, 2018 04 01.
Article
in English
| MEDLINE | ID: mdl-29554219
8.
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.
Am J Pathol
; 185(12): 3349-60, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26465071
9.
Spontaneous optic nerve compression in the osteopetrotic (op/op) mouse: a novel model of myelination failure.
J Neurosci
; 33(8): 3514-25, 2013 Feb 20.
Article
in English
| MEDLINE | ID: mdl-23426679
10.
Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.
Stem Cell Res
; 76: 103324, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38301425
11.
Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.
Stem Cell Res
; 76: 103333, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38350246
12.
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Front Mol Neurosci
; 17: 1268013, 2024.
Article
in English
| MEDLINE | ID: mdl-38650658
13.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Nat Commun
; 15(1): 365, 2024 Jan 08.
Article
in English
| MEDLINE | ID: mdl-38191484
14.
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.
Stem Cell Res
; 66: 103007, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36580887
15.
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.
Stem Cell Res
; 72: 103232, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37865062
16.
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Cancers (Basel)
; 15(6)2023 Mar 22.
Article
in English
| MEDLINE | ID: mdl-36980803
17.
CFTR Rescue by Lumacaftor (VX-809) Induces an Extensive Reorganization of Mitochondria in the Cystic Fibrosis Bronchial Epithelium.
Cells
; 11(12)2022 06 16.
Article
in English
| MEDLINE | ID: mdl-35741067
18.
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Birth Defects Res
; 114(20): 1440-1448, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36345927
19.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Front Pediatr
; 10: 847549, 2022.
Article
in English
| MEDLINE | ID: mdl-35573960
20.
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Orphanet J Rare Dis
; 17(1): 286, 2022 07 19.
Article
in English
| MEDLINE | ID: mdl-35854306