Michaela Auer‐Grumbach
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View article: Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability Open
Historically defined as non–functional copies of coding genes, pseudogenes are an abundant yet underexplored element in the human genome, despite growing evidence linking them to human diseases. From a genome wide screen, we identified 411…
View article: His108Arg Transthyretin Amyloidosis—Shedding Light on a Distinctively Malignant Variant
His108Arg Transthyretin Amyloidosis—Shedding Light on a Distinctively Malignant Variant Open
Variant transthyretin amyloidosis cardiomyopathy (ATTRv-CM) is a rare form of cardiac amyloidosis associated with many possible mutations in the transthyretin gene, presenting as various distinct clinical phenotypes. Among these, the His10…
View article: Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Open
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rar…
View article: Reduction in <sup>99m</sup> Tc-DPD myocardial uptake with therapy of ATTR cardiomyopathy
Reduction in <sup>99m</sup> Tc-DPD myocardial uptake with therapy of ATTR cardiomyopathy Open
Aims: Novel ribonucleic acid interference (RNAi) therapeutics such as patisiran and inotersen have been shown to benefit neurologic disease course and quality of life in patients with hereditary transthyretin amyloidosis (ATTRv). We…
View article: A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon Open
Results of NGS, FLA and SS using different primers with and without the AT-repeat.Contradicting results are highlighted in bold.Patient ID are listed according to the numbers on the pedigrees (figure 1A).*Due to lack of DNA, complete testi…
View article: Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging
Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging Open
Aims: We tested the hypothesis that artificial intelligence (AI)-powered algorithms applied to cardiac magnetic resonance (CMR) images could be able to detect the potential patterns of cardiac amyloidosis (CA). Readers in CMR centers with …
View article: Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
The publisher apologizes for publishing an incorrect version of the article. This has been corrected.
View article: ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable Open
View article: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated…
View article: Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement
Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement Open
Summary The prevalence and significance of cardiac amyloidosis have been considerably underestimated in the past; however, the number of patients diagnosed with cardiac amyloidosis has increased significantly recently due to growing awaren…
View article: The genetic landscape of axonal neuropathies in the middle-aged and elderly
The genetic landscape of axonal neuropathies in the middle-aged and elderly Open
A detectable fraction of unexplained late-onset axonal neuropathies is genetically determined, by variants in either CMT genes or genes involved in other conditions that affect the peripheral nerves and can mimic a CMT phenotype. MME
View article: Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020
Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020 Open
Inherited peripheral neuropathy is the most common hereditary neuromuscular disease with a prevalence of about 1:2,500. The most frequent form is Charcot-Marie-Tooth disease (CMT, or hereditary motor and sensory neuropathy [HMSN]). Other c…
View article: Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots Open
Background: Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominantly inherited disorder caused by an accumulation of amyloid fibrils in tissues due to mutations in the transthyretin (TTR) gene. The prevalence of hATTR is sti…
View article: Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature Open
View article: Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Open
View article: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Open
View article: FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications Open
The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. I…
View article: Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness Open
View article: Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies
Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies Open
HSPB1 (heat shock protein family B [small] member 1) is a ubiquitously expressed molecular chaperone. Most mutations in HSPB1 cause axonal Charcot-Marie-Tooth neuropathy and/or distal hereditary motor neuropathy. In this study we show that…
View article: Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies
Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies Open
HSPB1 (heat shock protein family B [small] member 1) is a ubiquitously expressed molecular chaperone. Most mutations in HSPB1 cause axonal Charcot-Marie-Tooth neuropathy and/or distal hereditary motor neuropathy. In this study we sh…
View article: Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease Open
View article: Additional file 3: Table S2. of Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease
Additional file 3: Table S2. of Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease Open
mRNAs enriched more than 2-fold in the PCBP1 IP relative to input. Relates to Fig. 4. (XLSX 74 kb)
View article: Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy Open
View article: Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies Open
View article: Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy Open
View article: Diabetic neuropathy increases stimulation threshold during popliteal sciatic nerve block
Diabetic neuropathy increases stimulation threshold during popliteal sciatic nerve block Open
View article: RARE CODING VARIANTS IN THE MME GENE, ENCODING THE METALLOPROTEASE NEPRILYSIN, ARE LINKED TO LATE-ONSET AXONAL NEUROPATHIES
RARE CODING VARIANTS IN THE MME GENE, ENCODING THE METALLOPROTEASE NEPRILYSIN, ARE LINKED TO LATE-ONSET AXONAL NEUROPATHIES Open
Rare coding variants in the mme gene, encoding the metalloprotease neprilysin, are linked to late-onset axonal neuropathies
View article: <scp><i>MORC</i></scp><i>2</i> mutations cause axonal <scp>C</scp>harcot–<scp>M</scp>arie–<scp>T</scp>ooth disease with pyramidal signs
<span><i>MORC</i></span><i>2</i> mutations cause axonal <span>C</span>harcot–<span>M</span>arie–<span>T</span>ooth disease with pyramidal signs Open
Objective To use linkage analysis and whole exome sequencing to identify the genetic mutation in a multigenerational Australian family with Charcot–Marie–Tooth disease type 2 (CMT2) and pyramidal signs. Methods Genome‐wide linkage analysis…
View article: Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception Open
View article: Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 Open