par Remiche, Gauthier ;Vandernoot, Isabelle ;Sadeghi-Meibodi, Niloufar ;Desmyter, Laurence
Référence Neurogenetics
Publication Publié, 2021-04-01
Article révisé par les pairs
Titre:
  • SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
Auteur:Remiche, Gauthier; Vandernoot, Isabelle; Sadeghi-Meibodi, Niloufar; Desmyter, Laurence
Informations sur la publication:Neurogenetics
Statut de publication:Publié, 2021-04-01
Sujet CREF:Sciences cognitives
Biologie
Génétique clinique
Mots-clés:ALS
C19orf12
NBIA4
SPG43
MeSH keywords:Adolescent
Amyotrophic Lateral Sclerosis -- diagnosis -- genetics
Brain -- pathology
Female
Heterozygote
Humans
Male
Mitochondrial Proteins -- genetics
Mutation -- genetics
Phenotype
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1364-6745
info:doi/10.1007/s10048-020-00631-4
info:pii/10.1007/s10048-020-00631-4
info:scp/85098802163
info:pmid/33394258

Documents en relation

DI-fusion

  • POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program
    par Baptista Freitas, Marta , Desmyter, Laurence , Badoer, Cindy , Smits, Guillaume , Vandernoot, Isabelle , T’Kint De Roodenbeke, Daphne
    Publication 2024-08
  • Microtubules and mechanosensing: key players in endothelial responses to mechanical stimuli
    par Mohammed, Danahe , Hamid, Ibrahim , Vanhollebeke, Benoît , Martin, Maud
    Publication 2025-12
  • Spectrotemporal cortical dynamics and semantic control during sentence completion.
    par Coolen, Tim , Dumitrescu, Alexandru Mihai , Wens, Vincent , Bourguignon, Mathieu , Rovai, Antonin , Sadeghi-Meibodi, Niloufar , Urbain, Charline , Goldman, Serge , De Tiege, Xavier
    Publication 2024-07
  • Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
    par Rossi, Alessandra , Lin, Susan X N , Absalom, Nathan NL , Ortiz-De la Rosa, Sebastian , Liao, Vivian VWY , Mohammadi, Nazanin NA , Viswanathan, Sindhu , Stödberg, Tommy , Danieli, Alberto , Bonanni, Paolo , Aeby, Alec , Orsini, Alessandro , Bonuccelli, Alice , Rüegger, Andrea , Giraldez, Beatriz BG , Isidor, Bertrand , Stüve, Burkhard , Marini, Carla , Cesaroni, Elisabetta , Fenger, Christina D , Philippe, Christophe , Meunier, Colombine , Lederer, Damien , Moortgat, Stephanie , Spinelli, Egidio , Fallica, Elisa , Zeiner, Fiona , Bauman, Matthias , Licchetta, Laura , Bisulli, Francesca , Operto, Francesca FF , Benkel-Herrenbrueck, Ira , Gorman, Kathleen KM , Johannesen, Katrine KM , Platzer, Konrad , Schnabel, Franziska , Lagae, Lieven , Laufs, Mirjam , Zordania, Riina , Malone, Stephen , Messana, Tullio , Werckx, Wendy , Jonsson, Charlotta , Afawi, Zaid , Foiadelli, Thomas , Halleb, Yosra , Stoeva, Radka , Jennesson-Lyver, Mélanie , Lesca, Gaetan , Guerrini, Renzo , Berkovic, Samuel F , Scheffer, Ingrid E , Chebib, Mary , Gardella, Elena , Møller, Rikke Steensbjerre , Rubboli, Guido , Ahring, Philip PK
    Publication 2025-07
  • How meningiomas affect cognitive functions?
    par Goffinet, Sara , Lefranc, Florence , Slama, Hichem , Fery, Patrick , Wens, Vincent , Rovai, Antonin , Trotta, Nicola , Leurquin-Sterk, Gil , Sadeghi-Meibodi, Niloufar , De Tiege, Xavier , Bertels, Julie
    Publication 2024-05-31