Angela Abicht


Ontology type: schema:Person     


Person Info

NAME

Angela

SURNAME

Abicht

Publications in SciGraph latest 50 shown

  • 2021-11-25 Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence? in JOURNAL OF NEUROLOGY
  • 2020-11-26 Krankheiten der neuromuskulären Übertragung in PÄDIATRIE
  • 2020-02-19 Multipler Acyl-CoA-Dehydrogenase-Mangel/Glutarazidurie Typ II: schwierige Diagnose, einfache Therapie in DER NERVENARZT
  • 2019-02-14 Congenital myasthenic syndrome caused by novel COL13A1 mutations in JOURNAL OF NEUROLOGY
  • 2019-01-08 Krankheiten der neuromuskulären Übertragung bei Kindern und Jugendlichen in PÄDIATRIE
  • 2018-11-26 A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-07-04 Kongenitale myasthene Syndrome im Erwachsenenalter in DER NERVENARZT
  • 2018-04-18 Molekulare Autopsie nach plötzlichem Herztod in RECHTSMEDIZIN
  • 2017-11-30 Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients in JOURNAL OF NEUROLOGY
  • 2016-10-21 Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-01-11 KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors in JOURNAL OF NEUROLOGY
  • 2015-11-16 The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy in NEUROMOLECULAR MEDICINE
  • 2015-04-15 Krankheiten der neuromuskulären Übertragung bei Kindern und Jugendlichen in PÄDIATRIE
  • 2014-09-30 Krankheiten der neuromuskulären Übertragung in PÄDIATRIE
  • 2013-09-18 Novel CACNA1A mutation(s) associated with slow saccade velocities in JOURNAL OF NEUROLOGY
  • 2012-11-18 NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome in JIMD REPORTS - VOLUME 10
  • 2012-01-25 Classical MERRF phenotype associated with mitochondrial tRNALeu (m.3243A>G) mutation in EUROPEAN JOURNAL OF PEDIATRICS
  • 2011-10-06 Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations in JOURNAL OF NEUROLOGY
  • 2011-08-07 A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome in JOURNAL OF NEUROLOGY
  • 2011-05-18 Neuromuskuläre Signalübertragung im Erwachsenenalter in DER NERVENARZT
  • 2010-04-20 Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2 in JOURNAL OF NEUROLOGY
  • 2009-03-01 Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAVal causing MNGIE-like gastrointestinal dysmotility and cachexia in JOURNAL OF NEUROLOGY
  • 2005 Neuromuskuläre Erkrankungen in PÄDIATRIE
  • 2000-01 Leber’s hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS in JOURNAL OF NEUROLOGY
  • 1999-04 Localization of Transforming Growth Factor β in Association with Neuromuscular Junctions in Adult Human Muscle in CELLULAR AND MOLECULAR NEUROBIOLOGY
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