Issue 4/2022
Content (7 Articles)
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review
Natalia Acosta-Baena, Johanna Alexandra Tejada-Moreno, Mauricio Arcos-Burgos, Carlos Andrés Villegas-Lanau
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET
Armand Hocquel, Jean-Marie Ravel, Laetitia Lambert, Céline Bonnet, Guillaume Banneau, Bophara Kol, Laurène Tissier, Lucie Hopes, Mylène Meyer, Céline Dillier, Maud Michaud, Arnaud Lardin, Anne-Laure Kaminsky, Emmanuelle Schmitt, Liang Liao, François Zhu, Bronner Myriam, Carine Bossenmeyer-Pourié, Antoine Verger, Mathilde Renaud
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
Marwa Maalej, Lamia Sfaihi, Marwa Ammar, Fakher Frikha, Marwa Kharrat, Olfa Alila-Fersi, Emna Mkaouar-Rebai, Abdelaziz Tlili, Thouraya Kammoun, Faiza Fakhfakh
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders
Amytice Mirchi, Alexa Derksen, Luan T. Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F. Theil, Geneviève Bernard
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation
Mustafa Jaffry, Soumya Bouchachi, Mohsen Ahmed, Steve N. Gad, Swati Sathe, Nizar Souayah
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
Miguel Tábuas-Pereira, Rita Guerreiro, Célia Kun-Rodrigues, Maria Rosário Almeida, José Brás, Isabel Santana