Expanding the Clinical Spectrum of <i>UBTF</i> -Related Neurodevelopmental Disorder-Reference-Cited by-同舟云学术

Expanding the Clinical Spectrum of UBTF -Related Neurodevelopmental Disorder

Published:2023-12 Issue:6 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Pietra Andrea¹,Palombo Flavia¹,Giannotta Melania¹,Maffei Monica¹,Fiorini Claudio¹,Costa Roberta¹,Cenacchi Giovanna¹,Carelli Valerio¹,Cordelli Duccio Maria¹,Pini Antonella¹,Garone Caterina¹^ORCID

Affiliation:

1. From the UO Genetica Medica (Andrea Pietra), IRCCS Azienda Ospedaliero-Universitaria di Bologna; Department of Medical and Surgical Sciences (Andrea Pietra, C.G.), Alma Mater Studiorum University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.P.), Programma di Neurogenetica; IRCCS Istituto delle Scienze Neurologiche di Bologna (M.G., Antonella Pini, C.G.), UOC Neuropsichiatria dell'età Pediatrica; IRCCS Istituto delle Scienze Neurologiche di Bologna (M.M., C.F.), Programma di...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200098

Reference9 articles.

1. The role of UBF in regulating the structure and dynamics of transcriptionally active rDNA chromatin

2. A recurrent de novo missense mutation in UBTF causes developmental neuroregression

3. Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

4. Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism

5. Ultrastructural changes in LGMD1F

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