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1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38423010
2.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Ann Neurol
; 94(3): 470-485, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37243847
3.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Neurol Sci
; 45(3): 1007-1016, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37853291
4.
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Ann Neurol
; 92(1): 138-153, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35340043
5.
Expanding the natural history of CASK-related disorders to the prenatal period.
Dev Med Child Neurol
; 65(4): 544-550, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36175354
6.
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Cell Mol Life Sci
; 79(10): 526, 2022 Sep 22.
Article
in English
| MEDLINE | ID: mdl-36136249
7.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-34675124
8.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34085948
9.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Hum Mutat
; 43(1): 67-73, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34747546
10.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35150594
11.
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Am J Med Genet A
; 188(10): 3032-3040, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35876338
12.
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
J Med Genet
; 58(7): 475-483, 2021 07.
Article
in English
| MEDLINE | ID: mdl-32737135
13.
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Int J Mol Sci
; 23(12)2022 Jun 16.
Article
in English
| MEDLINE | ID: mdl-35743164
14.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32337771
15.
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
Int J Mol Sci
; 22(9)2021 05 07.
Article
in English
| MEDLINE | ID: mdl-34067185
16.
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.
Int J Mol Sci
; 22(18)2021 Sep 14.
Article
in English
| MEDLINE | ID: mdl-34576077
17.
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Hum Mol Genet
; 27(11): 1892-1904, 2018 06 01.
Article
in English
| MEDLINE | ID: mdl-29547997
18.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nephrol Dial Transplant
; 35(7): 1195-1202, 2020 07 01.
Article
in English
| MEDLINE | ID: mdl-30403813
19.
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Int J Mol Sci
; 21(10)2020 May 20.
Article
in English
| MEDLINE | ID: mdl-32443735
20.
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Int J Mol Sci
; 21(4)2020 Feb 18.
Article
in English
| MEDLINE | ID: mdl-32085672