Astrid Pechmann

Astrid Pechmann

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Astrid Pechmann

Astrid Pechmann

Publications by authors named "Astrid Pechmann"

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17Publications

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Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.

J Neuromuscul Dis 2020 ;7(1):1-13

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.3233/JND-190424DOI Listing
January 2020

Decision-Making Regarding Ventilator Support in Children with SMA Type 1-A Cross-Sectional Survey among Physicians.

Neuropediatrics 2019 12 13;50(6):359-366. Epub 2019 Aug 13.

Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1055/s-0039-1694986DOI Listing
December 2019

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.

Neuromuscul Disord 2019 11 13;29(11):907-909. Epub 2019 Sep 13.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Department of Neuropediatrics, University Hospital Bonn, University of Bonn, Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.09.001DOI Listing
November 2019

Increased von Willebrand factor parameters in children with febrile seizures.

PLoS One 2019 3;14(1):e0210004. Epub 2019 Jan 3.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0210004PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317815PMC
September 2019

Discrepancy in redetermination of copy numbers in children with SMA.

Neurology 2019 Aug 24;93(6):267-269. Epub 2019 Jun 24.

From the Department of Neuropediatrics and Muscle Disorders (D.C.S., A.P., T.L., J.K.), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg; and the Institute of Human Genetics (J.B., B.W.), Center for Molecular Medicine Cologne, Institute for Genetics, and Center for Rare Diseases Cologne, University of Cologne, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000007836DOI Listing
August 2019

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.

Orphanet J Rare Dis 2019 06 24;14(1):152. Epub 2019 Jun 24.

Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1186/s13023-019-1125-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591958PMC
June 2019

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.

Orphanet J Rare Dis 2019 01 21;14(1):18. Epub 2019 Jan 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-0
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http://dx.doi.org/10.1186/s13023-019-0998-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341722PMC
January 2019

Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1.

Eur J Paediatr Neurol 2018 Jan 21;22(1):122-127. Epub 2017 Nov 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.11.001DOI Listing
January 2018

Diagnosis and New Treatment Avenues in Spinal Muscular Atrophy.

Neuropediatrics 2017 08 1;48(4):273-281. Epub 2017 Jun 1.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1055/s-0037-1603517DOI Listing
August 2017

Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome.

Neuropediatrics 2015 Feb 24;46(1):5-12. Epub 2014 Oct 24.

Division of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1055/s-0034-1393707DOI Listing
February 2015

Influence of waveform and current direction on short-interval intracortical facilitation: a paired-pulse TMS study.

Brain Stimul 2014 Jan-Feb;7(1):49-58. Epub 2013 Sep 10.

Department of Pediatrics, Technische Universität München, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.brs.2013.08.002DOI Listing
August 2014

Transcranial magnetic stimulation with a half-sine wave pulse elicits direction-specific effects in human motor cortex.

BMC Neurosci 2012 Nov 5;13:139. Epub 2012 Nov 5.

Department of Pediatrics, Technical University Munich, Kinderzentrum München gemeinnützige GmbH, Heiglhofstrasse 63, Munich 81377, Germany.

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http://dx.doi.org/10.1186/1471-2202-13-139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519534PMC
November 2012

The number of full-sine cycles per pulse influences the efficacy of multicycle transcranial magnetic stimulation.

Brain Stimul 2012 Apr 19;5(2):148-54. Epub 2011 Apr 19.

Division of Neuropaediatrics and Muscular Disorders, Department of Paediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.brs.2011.02.006DOI Listing
April 2012