List of works - Ana Westenberger

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism

scientific article published on 03 May 2019

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

scientific article published on 26 November 2019

An integrated OMICS approach unravels the elusive genetic cause of X-linked dystonia-parkinsonism

scientific article published on 01 July 2018

Biallelic MYORG mutations: Primary familial brain calcification goes recessive

scientific article published on 24 January 2019

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy

scientific article published on 22 December 2020

Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing

scientific article published on 06 July 2021

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

scientific article published on 7 May 2014

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

scientific article published on 13 April 2014

Essential phenotypes of NOTCH2NLC-related repeat expansion disorder

scientific article published on 01 January 2020

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

scientific article published on 15 February 2016

Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study

scientific article published on 20 April 2017

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

scientific article published on 03 February 2017

First Report of a Filipino with Mohr-Tranebjaerg Syndrome

scientific article published on 26 August 2015

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.

scientific article published on 18 September 2017

Genetics of Parkinson's disease

scientific article

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism

scientific article published on 01 July 2018

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach

scientific article published on 25 May 2018

Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification

scientific article published on 01 January 2020

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

scientific article published on 10 August 2015

Phenotypic insights into ADCY5-associated disease.

scientific article published on 08 April 2016

Primary familial brain calcifications: genetic and clinical update

scientific article published on 01 August 2019

RAB39B mutations are a rare finding in Parkinson disease patients

scientific article published on 22 December 2015

Reply letter to "ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity"

scientific article published on 01 December 2016

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

scientific article published on 27 October 2016

Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.

scientific article published on 10 January 2017

The genetics of primary familial brain calcifications.

scientific article published on October 2014

List of works by Ana Westenberger