Reginald E. Bittner
Vienna, Austria
Last Updated: 09/26/2026
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Found 56 publications
Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class.
Journal: Investigative ophthalmology & visual science
Published: April 07, 2026
Frequent expression of aberrant chimeric Cdkn2a transcripts in mouse models of muscular dystrophy.
Journal: Scientific reports
Published: February 09, 2026
Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome.
Journal: Molecular and cellular pediatrics
Published: December 01, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.
Journal: Investigative ophthalmology & visual science
Published: June 04, 2025
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 22, 2025
Why should there be an update of the guidelines for laparoscopic treatment of ventral and incisional abdominal wall hernias by the International Endohernia Society?
Journal: Annals of medicine and surgery (2012)
Published: January 30, 2025
Dephosphorylated uncarboxylated Matrix-Gla-Protein as candidate biomarker for immune-mediated vascular remodeling and prognosis in pulmonary hypertension.
Journal: Scientific reports
Published: April 26, 2024
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Journal: Neuropediatrics
Published: January 05, 2023
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Journal: International journal of molecular sciences
Published: November 28, 2022
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Journal: Orphanet journal of rare diseases
Published: February 16, 2022
Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome.
Journal: Life science alliance
Published: January 10, 2022
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition.
Journal: Neuropediatrics
Published: January 29, 2021
Last Updated: 09/26/2026