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1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 111(6): 1206-1221, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38772379
2.
Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?
Prenat Diagn
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38768012
3.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37183190
4.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35607920
5.
Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes.
Eur J Orthop Surg Traumatol
; 31(3): 579-585, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33068166
6.
Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center.
Neurol Sci
; 41(2): 341-346, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31650437
7.
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Epilepsia
; 60(5): e31-e36, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30719712
8.
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia
; 60(4): 689-706, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30866059
9.
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.
Brain
; 146(1): e1-e4, 2023 01 05.
Article
in English
| MEDLINE | ID: mdl-36068688
10.
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.
Neurocase
; 25(1-2): 62-65, 2019.
Article
in English
| MEDLINE | ID: mdl-30991884
11.
Clinical and molecular consequences of exon 78 deletion in DMD gene.
J Hum Genet
; 63(6): 761-764, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29556034
12.
Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23.
Clin Exp Rheumatol
; 37 Suppl 121(6): 163, 2019.
Article
in English
| MEDLINE | ID: mdl-31287399
13.
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Am J Hum Genet
; 87(3): 365-70, 2010 Sep 10.
Article
in English
| MEDLINE | ID: mdl-20727515
14.
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.
Neurol Sci
; 34(7): 1057-63, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-22592564
15.
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.
Genes (Basel)
; 14(2)2023 02 15.
Article
in English
| MEDLINE | ID: mdl-36833427
16.
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.
Epileptic Disord
; 25(6): 874-879, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37518898
17.
Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature review.
Transl Pediatr
; 12(2): 292-300, 2023 Feb 28.
Article
in English
| MEDLINE | ID: mdl-36891363
18.
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
Front Pediatr
; 11: 1326552, 2023.
Article
in English
| MEDLINE | ID: mdl-38178912
19.
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
20.
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
Eur J Med Genet
; 65(11): 104622, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-36122673