Brunhilde Wirth


Ontology type: schema:Person     


Person Info

NAME

Brunhilde

SURNAME

Wirth

Publications in SciGraph latest 50 shown

  • 2021-10-12 Diagnostik und Therapie der spinalen Muskelatrophie (SMA) bei Erwachsenen in DGNEUROLOGIE
  • 2021-05-23 Plastin 3 in health and disease: a matter of balance in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2021-03-31 Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years in ORPHANET JOURNAL OF RARE DISEASES
  • 2020-12-22 Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2020-09-16 Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy in BMC BIOLOGY
  • 2020-05-13 Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy in SCIENTIFIC REPORTS
  • 2019-10-15 Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2019-07-30 High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-07-03 Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy in SCIENTIFIC REPORTS
  • 2018-05-21 Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy in SCIENTIFIC REPORTS
  • 2017-12 Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-06-21 Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-11-16 Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2012-10-17 Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-08-01 Transformer (Tra2β): master regulator of myosin phosphatase alternative splicing and smooth muscle responses to NO/cGMP signaling in BMC PHARMACOLOGY
  • 2008-01-03 Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy in HUMAN GENETICS
  • 2007-01 X-linked infantile spinal muscular atrophy: Clinical definition and molecular mapping in GENETICS IN MEDICINE
  • 2006-11-29 Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy in NEUROGENETICS
  • 2006-05-25 The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells in HUMAN GENETICS
  • 2006-03-01 Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number in HUMAN GENETICS
  • 2006 Spinal Muscular Atrophy and Therapeutic Prospects in ALTERNATIVE SPLICING AND DISEASE
  • 2003-10-01 Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1 in HUMAN GENETICS
  • 2003-09-25 No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach in HUMAN GENETICS
  • 2002-02 Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2 in GENETICS IN MEDICINE
  • 2001-07-18 Best practice guidelines for molecular analysis in spinal muscular atrophy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-12 Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy in HUMAN GENETICS
  • 2000-07-24 An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000 Spinale Muskelatrophien in MONOGEN BEDINGTE ERBKRANKHEITEN 1
  • 1999-06-28 Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma in HUMAN GENETICS
  • 1998-09 Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics in NATURE GENETICS
  • 1998-05 SMN oligomerization defect correlates with spinal muscular atrophy severity in NATURE GENETICS
  • 1997-09 Different entities of proximal spinal muscular atrophy within one family in HUMAN GENETICS
  • 1996-05 Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene in HUMAN GENETICS
  • 1995 Mapping of the Spinal Muscular Atrophy (SMA) Gene to a 750-kb Interval Flanked by Two New Microsatellites in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1994-07 Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen in NATURE GENETICS
  • 1993 Efficiency of various strategies and materials to generate new markers: saturating the region 5q11.2-q13.3 with 30 new randomly distributed clones. in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1989-01 Gene diagnosis in X-linked ichthyosis in ARCHIVES OF DERMATOLOGICAL RESEARCH
  • 1988-10 Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency) in HUMAN GENETICS
  • 1987-11 Autosomal recessive and dominant forms of polycystic kidney disease are not allelic in HUMAN GENETICS
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