A. Jahic

发表

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3′UTR‐encoded, aggregation‐inducing motif

C. Beetz, C. Hübner, S. Biskup, 2018, Human mutation.

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

J. Jankovic, P. Hogarth, B. George, 2019, Molecular genetics & genomic medicine.

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

S. Klebe, R. Schüle, L. Schöls, 2015, Orphanet Journal of Rare Diseases.

First HPSE2 missense mutation in urofacial syndrome

G. Nürnberg, P. Nürnberg, C. Hübner, 2012, Clinical genetics.

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

W. Newman, C. Beetz, K. Tylee, 2016, Human Genome Variation.

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

L. Schöls, C. Biskup, M. Kessels, 2013, PLoS genetics.

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia

M. Simpson, M. Patton, R. Trembath, 2016, Human mutation.

A polymorphic Alu insertion that mediates distinct disease-associated deletions

C. Beetz, T. Deufel, A. Erichsen, 2016, European Journal of Human Genetics.

Doublet‐Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions

S. Zuchner, C. Beetz, W. Emberger, 2017, Human mutation.

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

Ø. Braaten, C. Beetz, F. Wijburg, 2019, Molecular genetics & genomic medicine.

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

C. Beetz, Rita-Eva Varga, Rizwan Mumtaz, 2012, Analytical biochemistry.

Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts.

C. Beetz, J. Mascherbauer, R. Windhager, 2018, Molecular and cellular probes.

Assessment of serum ferritin as a biomarker in COVID-19: bystander or participant? Insights by comparison with other infectious and non-infectious diseases

R. Tauber, K. Kappert, A. Jahic, 2020, Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals.

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8

C. Beetz, J. Plaschke, P. Zacher, 2014, Journal of the Neurological Sciences.

Comprehensive analysis and mathematical modelling of hemolysis impacting on potassium levels in patients with and without renal impairment.

N. Neuwinger, K. Kappert, A. Jahic, 2022, Clinical biochemistry.