Myriam Bronner

Nancy, France

Last Updated: 09/26/2026

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Found 20 publications

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study.

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 20, 2026

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal: Journal of medical genetics

Published: April 02, 2024

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Journal: Scientific reports

Published: January 31, 2023

ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case.

ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case.

Journal: European journal of medical genetics

Published: December 13, 2022

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Journal: Clinical genetics

Published: August 18, 2022

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

Journal: Journal of neurology

Published: April 04, 2022

First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.

First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.

Journal: American journal of medical genetics. Part A

Published: March 21, 2022

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Journal: Human mutation

Published: December 02, 2021

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

Journal: Cancer research

Published: August 14, 2019

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 05, 2017

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Journal: Oncotarget

Published: September 07, 2017

BRCA Share: A Collection of Clinical BRCA Gene Variants.

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Journal: Human mutation

Published: July 07, 2016

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Last Updated: 09/26/2026