Search details
1.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37872713
2.
Isolated bulbar palsy and dysphagia in children with respiratory symptoms.
Dev Med Child Neurol
; 64(4): 518-522, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34601721
3.
Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.
Brain
; 143(3): 811-832, 2020 03 01.
Article
in English
| MEDLINE | ID: mdl-32125365
4.
Machine learning with neuroimaging data to identify autism spectrum disorder: a systematic review and meta-analysis.
Neuroradiology
; 63(12): 2057-2072, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34420058
5.
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Epilepsia
; 61(5): 995-1007, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32469098
6.
Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.
Neuropediatrics
; 51(1): 6-21, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31634934
7.
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
J Med Genet
; 55(9): 607-616, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29789371
8.
Metaphyseal dysplasia associated with chronic facial nerve palsy.
Childs Nerv Syst
; 32(7): 1333-6, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-26847543
9.
Urinary tract effects of HPSE2 mutations.
J Am Soc Nephrol
; 26(4): 797-804, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25145936
10.
Zellweger syndrome and secondary mitochondrial myopathy.
Eur J Pediatr
; 174(4): 557-63, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25287621
11.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatr Neurol
; 141: 79-86, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36791574
12.
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.
Neurol Genet
; 8(2): e666, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35280940
13.
Genetic neuropathies presenting with CIDP-like features in childhood.
Neuromuscul Disord
; 31(2): 113-122, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33386210
14.
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Ann Neurol
; 64(5): 573-82, 2008 Nov.
Article
in English
| MEDLINE | ID: mdl-19067344
15.
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Front Neurol
; 10: 555, 2019.
Article
in English
| MEDLINE | ID: mdl-31191442
16.
A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations.
Case Rep Pediatr
; 2019: 7640140, 2019.
Article
in English
| MEDLINE | ID: mdl-31049239
17.
SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.
J Genet
; 98(2)2019 06.
Article
in English
| MEDLINE | ID: mdl-31204721
18.
Feeding problems and malnutrition in spinal muscular atrophy type II.
Neuromuscul Disord
; 18(5): 389-93, 2008 May.
Article
in English
| MEDLINE | ID: mdl-18420410
19.
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain
; 130(Pt 10): 2725-35, 2007 Oct.
Article
in English
| MEDLINE | ID: mdl-17878207
20.
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Brain
; 130(Pt 8): 2024-36, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17483490