Works matching IS 13646745 AND DT 2022 AND VI 23 AND IP 4

Results: 7

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation.
Published in:
Neurogenetics, 2022, v. 23, n. 4, p. 279, doi. 10.1007/s10048-022-00699-0
By:
- Tábuas-Pereira, Miguel;
- Guerreiro, Rita;
- Kun-Rodrigues, Célia;
- Almeida, Maria Rosário;
- Brás, José;
- Santana, Isabel
Publication type:
Article
Acknowledgement to referees 2021/2022.
Published in:
Neurogenetics, 2022, v. 23, n. 4, p. 285, doi. 10.1007/s10048-022-00702-8
Publication type:
Article
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
Published in:
Neurogenetics, 2022, v. 23, n. 4, p. 231, doi. 10.1007/s10048-022-00700-w
By:
- Acosta-Baena, Natalia;
- Tejada-Moreno, Johanna Alexandra;
- Arcos-Burgos, Mauricio;
- Villegas-Lanau, Carlos Andrés
Publication type:
Article
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.
Published in:
Neurogenetics, 2022, v. 23, n. 4, p. 275, doi. 10.1007/s10048-022-00698-1
By:
- Jaffry, Mustafa;
- Bouchachi, Soumya;
- Ahmed, Mohsen;
- Gad, Steve N.;
- Sathe, Swati;
- Souayah, Nizar
Publication type:
Article
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Published in:
Neurogenetics, 2022, v. 23, n. 4, p. 257, doi. 10.1007/s10048-022-00696-3
By:
- Maalej, Marwa;
- Sfaihi, Lamia;
- Ammar, Marwa;
- Frikha, Fakher;
- Kharrat, Marwa;
- Alila-Fersi, Olfa;
- Mkaouar-Rebai, Emna;
- Tlili, Abdelaziz;
- Kammoun, Thouraya;
- Fakhfakh, Faiza
Publication type:
Article
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Published in:
Neurogenetics, 2022, v. 23, n. 4, p. 271, doi. 10.1007/s10048-022-00697-2
By:
- Mirchi, Amytice;
- Derksen, Alexa;
- Tran, Luan T.;
- De Bie, Isabelle;
- Nadeau, Amélie;
- Lovett, Audrey;
- Raams, Anja;
- Vermeulen, Wim;
- Theil, Arjan F.;
- Bernard, Geneviève
Publication type:
Article
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PET.
Published in:
Neurogenetics, 2022, v. 23, n. 4, p. 241, doi. 10.1007/s10048-022-00695-4
By:
- Hocquel, Armand;
- Ravel, Jean-Marie;
- Lambert, Laetitia;
- Bonnet, Céline;
- Banneau, Guillaume;
- Kol, Bophara;
- Tissier, Laurène;
- Hopes, Lucie;
- Meyer, Mylène;
- Dillier, Céline;
- Michaud, Maud;
- Lardin, Arnaud;
- Kaminsky, Anne-Laure;
- Schmitt, Emmanuelle;
- Liao, Liang;
- Zhu, François;
- Myriam, Bronner;
- Bossenmeyer-Pourié, Carine;
- Verger, Antoine;
- Renaud, Mathilde
Publication type:
Article

Works matching IS 13646745 AND DT 2022 AND VI 23 AND IP 4

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation.

Acknowledgement to referees 2021/2022.

CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.

Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.

Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PET.