Ana L Töpf


Ontology type: schema:Person     


Person Info

NAME

Ana L

SURNAME

Töpf

Publications in SciGraph latest 50 shown

  • 2021-08-16 Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-08-13 Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-08-01 A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients in NEUROGENETICS
  • 2021-06-01 A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-06-01 Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-06-01 Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-06-01 Solving patients with rare diseases through programmatic reanalysis of genome-phenome data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-05-31 Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis in NATURE MEDICINE
  • 2021-05-10 Solving unsolved rare neurological diseases—a Solve-RD viewpoint in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-11-10 Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein in SCIENTIFIC REPORTS
  • 2020-01-03 POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern in ACTA NEUROPATHOLOGICA
  • 2019-10-01 Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein in SCIENTIFIC REPORTS
  • 2019-09-26 Severe neurodevelopmental disease caused by a homozygous TLK2 variant in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-09-16 Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-08-29 MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement in ACTA NEUROPATHOLOGICA
  • 2019-08-08 ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure in SCIENTIFIC REPORTS
  • 2018-07-30 Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness in SKELETAL MUSCLE
  • 2018-01-30 A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome in JOURNAL OF NEUROLOGY
  • 2017-11-17 Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-09-06 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-03-15 A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01-11 KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors in JOURNAL OF NEUROLOGY
  • 2013-06-19 Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot in BMC GENETICS
  • 2013-05-26 Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 in NATURE GENETICS
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