Literature DB >> 31235659

Discrepancy in redetermination of SMN2 copy numbers in children with SMA.

David Christof Schorling1, Jutta Becker1, Astrid Pechmann1, Thorsten Langer1, Brunhilde Wirth1, Janbernd Kirschner2.   

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Year:  2019        PMID： 31235659     DOI： 10.1212/WNL.0000000000007836

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  11 in total

Review 1.  Spinal muscular atrophy - insights and challenges in the treatment era.

Authors:  Eugenio Mercuri; Maria Carmela Pera; Mariacristina Scoto; Richard Finkel; Francesco Muntoni
Journal:  Nat Rev Neurol       Date:  2020-10-14       Impact factor: 42.937

2.  Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.

Authors:  Robert J Sicko; Paul A Romitti; Marilyn L Browne; Lawrence C Brody; Colleen F Stevens; James L Mills; Michele Caggana; Denise M Kay
Journal:  J Mol Diagn       Date:  2021-10-15       Impact factor: 5.568

Review 3.  Spinal muscular atrophy.

Authors:  Eugenio Mercuri; Charlotte J Sumner; Francesco Muntoni; Basil T Darras; Richard S Finkel
Journal:  Nat Rev Dis Primers       Date:  2022-08-04       Impact factor: 65.038

4.  One Year of Newborn Screening for SMA - Results of a German Pilot Project.

Authors:  Katharina Vill; Heike Kölbel; Oliver Schwartz; Astrid Blaschek; Bernhard Olgemöller; Erik Harms; Siegfried Burggraf; Wulf Röschinger; Jürgen Durner; Dieter Gläser; Uta Nennstiel; Brunhilde Wirth; Ulrike Schara; Beate Jensen; Marc Becker; Katharina Hohenfellner; Wolfgang Müller-Felber
Journal:  J Neuromuscul Dis       Date:  2019

5.  Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.

Authors:  Katharina Vill; Oliver Schwartz; Heike Kölbel; Wolfgang Müller-Felber; Astrid Blaschek; Dieter Gläser; Uta Nennstiel; Brunhilde Wirth; Siegfried Burggraf; Wulf Röschinger; Marc Becker; Ludwig Czibere; Jürgen Durner; Katja Eggermann; Bernhard Olgemöller; Erik Harms; Ulrike Schara
Journal:  Orphanet J Rare Dis       Date:  2021-03-31       Impact factor: 4.123

6.  Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.

Authors:  John N Milligan; Jessica L Larson; Stela Filipovic-Sadic; Walairat Laosinchai-Wolf; Ya-Wen Huang; Tsang-Ming Ko; Kristin M Abbott; Henny H Lemmink; Minna Toivonen; Johanna Schleutker; Caren Gentile; Vivianna M Van Deerlin; Huiping Zhu; Gary J Latham
Journal:  J Mol Diagn       Date:  2021-03-30       Impact factor: 5.341

7.  Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.

Authors:  Ivana Jedličková; Anna Přistoupilová; Lenka Nosková; Filip Majer; Viktor Stránecký; Hana Hartmannová; Kateřina Hodaňová; Helena Trešlová; Michaela Hýblová; Peter Solár; Gabriel Minárik; Mária Giertlová; Stanislav Kmoch
Journal:  Mol Genet Genomic Med       Date:  2020-04-26       Impact factor: 2.183

8.  Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.

Authors:  Frédérique Audic; Marta Gomez Garcia de la Banda; Delphine Bernoux; Paola Ramirez-Garcia; Julien Durigneux; Christine Barnerias; Arnaud Isapof; Jean-Marie Cuisset; Claude Cances; Christian Richelme; Carole Vuillerot; Vincent Laugel; Juliette Ropars; Cécilia Altuzarra; Caroline Espil-Taris; Ulrike Walther-Louvier; Pascal Sabouraud; Mondher Chouchane; Catherine Vanhulle; Valérie Trommsdorff; Anne Pervillé; Hervé Testard; Emmanuelle Lagrue; Catherine Sarret; Anne-Laude Avice; Pierre Beze-Beyrie; Vanessa Pauly; Susana Quijano-Roy; Brigitte Chabrol; Isabelle Desguerre
Journal:  Orphanet J Rare Dis       Date:  2020-06-12       Impact factor: 4.123

9.  European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.

Authors:  Janbernd Kirschner; Nina Butoianu; Nathalie Goemans; Jana Haberlova; Anna Kostera-Pruszczyk; Eugenio Mercuri; W Ludo van der Pol; Susana Quijano-Roy; Thomas Sejersen; Eduardo F Tizzano; Andreas Ziegler; Laurent Servais; Francesco Muntoni
Journal:  Eur J Paediatr Neurol       Date:  2020-07-09       Impact factor: 3.140

10.  Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?

Authors:  Wolfgang Müller-Felber; Katharina Vill; Oliver Schwartz; Dieter Gläser; Uta Nennstiel; Brunhilde Wirth; Siegfried Burggraf; Wulf Röschinger; Marc Becker; Jürgen Durner; Katja Eggermann; Christine Müller; Iris Hannibal; Bernd Olgemöller; Ulrike Schara; Astrid Blaschek; Heike Kölbel
Journal:  J Neuromuscul Dis       Date:  2020
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