Michaela Auer-Grumbach


Ontology type: schema:Person     


Person Info

NAME

Michaela

SURNAME

Auer-Grumbach

Publications in SciGraph latest 50 shown

  • 2022-06-16 Genetic pain loss disorders in NATURE REVIEWS DISEASE PRIMERS
  • 2021-05-06 ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable in ORPHANET JOURNAL OF RARE DISEASES
  • 2020-12-03 Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement in WIENER KLINISCHE WOCHENSCHRIFT
  • 2020-06-04 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 in JOURNAL OF NEUROLOGY
  • 2020-05-26 Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes in NATURE GENETICS
  • 2020-05-11 Hereditäre Transthyretinamyloidose (ATTRv-Amyloidose) in DGNEUROLOGIE
  • 2020-05-02 Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes in NATURE GENETICS
  • 2019-04-22 Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family in NEUROGENETICS
  • 2017-01-11 Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2016-10-29 Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy in MOLECULAR NEUROBIOLOGY
  • 2015-07-29 Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception in NATURE GENETICS
  • 2015-06-24 Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 in JOURNAL OF NEUROLOGY
  • 2015-05-25 Transcriptional regulator PRDM12 is essential for human pain perception in NATURE GENETICS
  • 2014-03-15 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges in JOURNAL OF NEUROLOGY
  • 2012-09-11 Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy in PEDIATRIC NEPHROLOGY
  • 2012-09-09 Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia in NATURE GENETICS
  • 2012-05-03 A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes in NEUROGENETICS
  • 2012-04-25 TRPV4 mutations in children with congenital distal spinal muscular atrophy in NEUROGENETICS
  • 2011-09-04 SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease in JOURNAL OF NEUROLOGY
  • 2009-12-27 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C in NATURE GENETICS
  • 2009-03-04 Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-10-15 Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia in NEUROGENETICS
  • 2008-03-18 Hereditary sensory neuropathy type I in ORPHANET JOURNAL OF RARE DISEASES
  • 2007-01-01 Sensory Neuropathies in HANDBOOK OF NEUROCHEMISTRY AND MOLECULAR NEUROBIOLOGY
  • 2006-03 Molecular genetics of hereditary sensory neuropathies in NEUROMOLECULAR MEDICINE
  • 2004-05-02 Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy in NATURE GENETICS
  • 2004-02-22 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome in NATURE GENETICS
  • 2003-09-16 Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes in HUMAN GENETICS
  • 2001-03 Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I in NATURE GENETICS
  • 2000-07 Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carpal tunnel: a prospective study of 450 hands in JOURNAL OF NEUROLOGY
  • 1999-12 Hereditäre motorisch-sensible Neuropathien (Charcot-Marie-Tooth Syndrom) und verwandte Neuropathien Aktuelle Klassifikation und Genotyp-Phänotyp-Korrelationen in DER NERVENARZT
  • 1999-07 Troyer syndrome: a combination of central brain abnormality and motor neuron disease? in JOURNAL OF NEUROLOGY
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