List of works - Michaela Auer-Grumbach

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

article

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

scientific article

A role for Rab7 in the movement of secretory granules in cytotoxic T lymphocytes

scientific article published on 21 April 2011

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

scientific article

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

scientific article published on 15 October 2008

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 26 May 2020

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review

scientific article

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 04 May 2020

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

scientific article published on 04 June 2020

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

scientific article published on 24 February 2011

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene

scientific article

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

article

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

article

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

scientific journal article

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

scientific article

Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations

scientific article published on 05 August 2020

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

scientific article published on 21 August 2018

Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement

scientific article published on 03 December 2020

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

scientific article

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

scientific article published on 01 August 2015

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy

scientific article

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

scientific article

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

scientific article

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

article

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

scientific article published on 01 June 2019

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

scientific article

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

scientific article published on 30 July 2007

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

scientific article

Genetic spectrum of hereditary neuropathies with onset in the first year of life ⬇️

scientific article published on August 11, 2011

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum

scientific article published in October 2014

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

scientific article published on 14 July 2020

Hereditary Neuropathies: Update 2017

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

scientific article published on 01 May 2007

Hereditary sensory and autonomic neuropathies

scientific article published on January 2013

Hereditary sensory neuropathies

scientific article

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

scientific journal article

Hereditary sensory neuropathy type I

scientific article

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

scientific article published on May 2012

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

scientific article

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila

scientific article

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

scientific article

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

scientific article

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

scientific article published on 22 April 2019

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

article

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8 T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

article

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

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

scientific article published on 09 December 2011

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

scientific article published on 10 December 2015

Molecular genetics of hereditary sensory neuropathies

scientific article published on January 2006

Motor neuron, nerve, and neuromuscular junction disease ⬇️

scientific article published on October 1, 2011

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease

scientific article published on 11 January 2017

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

scientific article

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

scientific article

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

scientific article published on 27 February 2013

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

scientific article

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

scientific article

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

scientific article

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

article

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

article

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

scientific article

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

scientific article

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

scientific journal article

Recent advances in hereditary sensory and autonomic neuropathies

scientific article published on October 2006

Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

scientific article published on 16 September 2003

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

scientific article published on 5 March 2008

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

scientific article

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

scientific article

TRPV4 mutations in children with congenital distal spinal muscular atrophy

scientific article

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

scientific article published on 29 October 2016

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

scientific article

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

scientific article published on 03 November 2020

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

scientific article published on 8 July 2004

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy

scientific article

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

scientific article

List of works by Michaela Auer-Grumbach

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

A role for Rab7 in the movement of secretory granules in cytotoxic T lymphocytes

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

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

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations

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

Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Genetic spectrum of hereditary neuropathies with onset in the first year of life ⬇️

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

Hereditary Neuropathies: Update 2017

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

Hereditary sensory and autonomic neuropathies

Hereditary sensory neuropathies

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

Hereditary sensory neuropathy type I

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8 T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

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

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

Molecular genetics of hereditary sensory neuropathies

Motor neuron, nerve, and neuromuscular junction disease ⬇️

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

Recent advances in hereditary sensory and autonomic neuropathies

Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

TRPV4 mutations in children with congenital distal spinal muscular atrophy

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

Transcriptional regulator PRDM12 is essential for human pain perception

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges