Martin Krenn
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View article: Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness Open
Slowly progressive proximal muscle weakness in an otherwise healthy male posed particular challenges for the treating physicians, considering the wide range of possible differentials. Here we present a case of a 52-year-old male with parap…
View article: Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria
Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria Open
This study was financially supported by F. Hoffmann-La Roche Ltd.
View article: AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders Open
Next-generation sequencing has improved diagnostic outcomes for neuromuscular disorders, but interpreting rare missense variants remains challenging. We evaluated AlphaMissense, a recently developed machine learning tool, for predicting mi…
View article: ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsy
ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsy Open
These findings suggest that ADAM23 contributes to epilepsy with reduced penetrance, potentially influenced by oligogenic factors. Although descriptive and hypothesis-generating, our data underscore the complexity of currently unexplored ge…
View article: The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis Open
Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of…
View article: Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase Open
Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and m…
View article: Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Holistic Exome-Based Genetic Testing in Adults With Epilepsy Open
Our study strongly supports the use of holistic genetic approaches, encompassing CNV and mitochondrial analyses, in adults with epilepsy. Similar to pediatric cohorts, results may inform clinical care. Moreover, we report on phenotype expa…
View article: Reduced Penetrance in Interferonopathy‐Associated Dystonia: Hope for Clues to Mechanism?
Reduced Penetrance in Interferonopathy‐Associated Dystonia: Hope for Clues to Mechanism? Open
View article: Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Open
Dystonia is a rare disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not ye…
View article: Efficacy and Safety of Risdiplam in Adults with 5q-Associated Spinal Muscular Atrophy: A Nationwide Observational Cohort Study in Austria
Efficacy and Safety of Risdiplam in Adults with 5q-Associated Spinal Muscular Atrophy: A Nationwide Observational Cohort Study in Austria Open
View article: Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1
Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1 Open
View article: Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes Open
Our data shed further light on the mild but recognizable features of SUFU haploinsufficiency and underline its marked phenotypic variability, even within families. Notably, neurodevelopmental and behavioral abnormalities are mild compared …
View article: De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy Open
View article: Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses Open
View article: <i>ARF1</i>-related disorder: phenotypic and molecular spectrum
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum Open
Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of th…
View article: The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study Open
Background Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed…
View article: <scp><i>GNAO1</i></scp> Haploinsufficiency Associated with a Mild <scp>Delayed‐Onset</scp> Dystonia Phenotype
<span><i>GNAO1</i></span> Haploinsufficiency Associated with a Mild <span>Delayed‐Onset</span> Dystonia Phenotype Open
With great interest we read the manuscript recently published by Wirth and colleagues reporting 24 individuals with variants in GNAO1 related to delayed-onset, dystonia-predominant phenotypes without encephalopathic features.1 Based on the…
View article: Muscle involvement in T‐cell large granular lymphocytic leukemia presenting with asymmetric limb‐girdle weakness and scapular winging
Muscle involvement in T‐cell large granular lymphocytic leukemia presenting with asymmetric limb‐girdle weakness and scapular winging Open
T-cell large granular lymphocytic leukemia (T-LGLL) is a rare hematological malignancy arising from a clonal expansion of cytotoxic T lymphocytes, clinically characterized by an indolent course and poor treatment response.1 The condition s…
View article: Short‐term and sustained clinical response following thymectomy in patients with myasthenia gravis
Short‐term and sustained clinical response following thymectomy in patients with myasthenia gravis Open
Background and purpose This study was undertaken to investigate short‐ and long‐term outcome following thymectomy in patients with acetylcholine receptor antibody (AChR‐Ab)‐positive myasthenia gravis (MG). Methods Rates of clinical respons…
View article: Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study
Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study Open
Background and purpose Hereditary myopathies with limb‐girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was to present a detailed clinical and gene…
View article: Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders Open
Clonal hematopoiesis because of somatic mutations in hematopoietic stem/progenitor cells is an age-related phenomenon and commonly observed when sequencing blood DNA in elderly individuals. Several genes that are implicated in clonal hemat…
View article: A de novo missense variant in <i>GABRA4</i> alters receptor function in an epileptic and neurodevelopmental phenotype
A de novo missense variant in <i>GABRA4</i> alters receptor function in an epileptic and neurodevelopmental phenotype Open
Variants in γ‐aminobutyric acid A (GABA A ) receptor genes cause different forms of epilepsy and neurodevelopmental disorders. To date, GABRA4 , encoding the α4‐subunit, has not been associated with a monogenic condition. However, preclini…
View article: A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability
A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability Open
Variants in CSDE1, a gene encoding a constrained RNA-binding protein, have recently been associated with a spectrum of neurodevelopmental conditions encompassing autism, seizures and ocular abnormalities. According to previously reported i…
View article: Incidence and clinical spectrum of rhabdomyolysis in general neurology: a retrospective cohort study
Incidence and clinical spectrum of rhabdomyolysis in general neurology: a retrospective cohort study Open
The objective of this retrospective cohort study was to evaluate demographic, clinical and laboratory characteristics of patients with rhabdomyolysis as defined by a serum creatine kinase (sCK) activity > 950 U/L. A total of 248 patients w…
View article: Using common genetic variants to find drugs for common epilepsies
Using common genetic variants to find drugs for common epilepsies Open
Better drugs are needed for common epilepsies. Drug repurposing offers the potential of significant savings in the time and cost of developing new treatments. In order to select the best candidate drug(s) to repurpose for a disease, it is …
View article: Estimation of patent foramen ovale size using transcranial Doppler ultrasound in patients with ischemic stroke
Estimation of patent foramen ovale size using transcranial Doppler ultrasound in patients with ischemic stroke Open
Background and Purpose Patent foramen ovale (PFO)is associated with cryptogenic stroke, especially in young adults. Transcranial Doppler (TCD) ultrasound is used as a screening tool before transesophageal echocardiography (TEE). However, t…
View article: Real-world treatment of adult patients with Guillain-Barré syndrome over the last two decades
Real-world treatment of adult patients with Guillain-Barré syndrome over the last two decades Open
View article: Childhood‐onset progressive dystonia associated with pathogenic truncating variants in <i>CHD8</i>
Childhood‐onset progressive dystonia associated with pathogenic truncating variants in <i>CHD8</i> Open
Originally described as a risk factor for autism, CHD8 loss‐of‐function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the CHD8 ‐related phenotype with the description of…
View article: Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy
Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy Open
Objective Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug‐resistant epilepsy remains unchanged…
View article: Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study Open
Background Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives We sought to validate a recently introduced scoring algorithm for dystonia, predicting t…