Publications by authors named "Rolf Stucka"

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HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.
Andreas Roos, Martin Häusler, Laxmikanth Kollipara, Ana Topf, Corinna Preusse, Rolf Stucka

J Neuromuscul Dis· September 2024

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The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Julia Zibold, Lola E R Lessard, Flavien Picard, Lara Gruijs da Silva, Yelyzaveta Zadorozhna, Rolf Stucka

Brain· May 2024

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Rolf Stucka

Brain· December 2023

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka

Brain· September 2021

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka

Brain· June 2021

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PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
Luca Bartesaghi, Yiqiao Wang, Paula Fontanet, Simone Wanderoy, Finja Berger, Rolf Stucka

Cell Rep· March 2019

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MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Matthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, Wolfgang N Löscher, Rolf Stucka

Clin Genet· January 2019

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Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Vandana Shashi, Maria M Magiera, Dennis Klein, Maha Zaki, Kelly Schoch, Rolf Stucka

EMBO J· December 2018

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Targeted HIV-1 Latency Reversal Using CRISPR/Cas9-Derived Transcriptional Activator Systems.
Julia K Bialek, Gábor A Dunay, Maike Voges, Carola Schäfer, Michael Spohn, Rolf Stucka

PLoS One· July 2017

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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Rolf Stucka

Am J Hum Genet· March 2017

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Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, Manuela Zitzelsberger, Andreas C Themistocleous, Rolf Stucka

Nat Genet· August 2015

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Transcriptional regulator PRDM12 is essential for human pain perception.
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, Manuela Zitzelsberger, Andreas C Themistocleous, Rolf Stucka

Nat Genet· July 2015

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A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
Marina Dusl, Jan Senderek, Juliane S Müller, Johannes G Vogel, Anja Pertl, Rolf Stucka

Hum Mol Genet· June 2015

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Highly significant antiviral activity of HIV-1 LTR-specific tre-recombinase in humanized mice.
Ilona Hauber, Helga Hofmann-Sieber, Jan Chemnitz, Danilo Dubrau, Janet Chusainow, Rolf Stucka

PLoS Pathog· April 2014

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Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Constanze Gallenmüller, Wolfgang Müller-Felber, Marina Dusl, Rolf Stucka, Velina Guergueltcheva

Neuromuscul Disord· January 2014

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Long-term preservation of cardiac structure and function after adeno-associated virus serotype 9-mediated microdystrophin gene transfer in mdx mice.
Stefanie Schinkel, Ralf Bauer, Raffi Bekeredjian, Rolf Stucka, Désirée Rutschow

Hum Gene Ther· June 2012

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Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes.
Nancy Larochelle, Rolf Stucka, Norman Rieger, Lothar Schermelleh, Gudrun Schiedner

Transgenic Res· February 2011

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Clinical and neuropathological findings in patients with TACO1 mutations.
Jürgen Seeger, Bertold Schrank, Angela Pyle, Rolf Stucka, Ulrich Lörcher

Neuromuscul Disord· November 2010

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Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
Kristian Borg, Rolf Stucka, Matthew Locke, Eva Melin, Gabrielle Ahlberg

Hum Mutat· September 2009

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Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophy.
Louise H Jørgensen, Nancy Larochelle, Kristian Orlopp, Patrick Dunant, Roy W R Dudley, Rolf Stucka

Hum Gene Ther· June 2009

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A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
Juliane S Müller, Angela Abicht, Hans-Jürgen Christen, Rolf Stucka, Ulrike Schara

Neuromuscul Disord· November 2004

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Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice.
Patrick Dunant, Nancy Larochelle, Christian Thirion, Rolf Stucka, Daniel Ursu

Mol Ther· July 2003

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Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Carolin Schmidt, Angela Abicht, Klaus Krampfl, Wolfgang Voss, Rolf Stucka

Neuromuscul Disord· March 2003

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Strategies for muscle-specific targeting of adenoviral gene transfer vectors.
Christian Thirion, Nancy Larochelle, Christoph Volpers, Patrick Dunant, Rolf Stucka

Neuromuscul Disord· October 2002

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A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.
Angela Abicht, Rolf Stucka, Carolin Schmidt, Alexandre Briguet, Sebastian Höpfner

Brain· May 2002

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