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Research | 19 October 2016 | Open
Kinetics of ventilation-induced changes in diaphragmatic metabolism by bilateral phrenic pacing in a piglet model
- Thomas Breuer
- , Nima Hatam
- , Benjamin Grabiger
- , Gernot Marx
- , Bradley J. Behnke
- , Joachim Weis
- , Ruedger Kopp
- , Ghislaine Gayan-Ramirez
- , Norbert Zoremba
- & Christian S. Bruells
Scientific Reports 6 , 1–10

Rights & permissionsfor article Kinetics of ventilation-induced changes in diaphragmatic metabolism by bilateral phrenic pacing in a piglet model . Opens in a new window.
Amendments and Corrections | 29 July 2015
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
- Ya-Chun Chen
- , Michaela Auer-Grumbach
- , Shinya Matsukawa
- , Manuela Zitzelsberger
- , Andreas C Themistocleous
- , Tim M Strom
- , Chrysanthi Samara
- , Adrian W Moore
- , Lily Ting-Yin Cho
- , Gareth T Young
- , Caecilia Weiss
- , Maria Schabhüttl
- , Rolf Stucka
- , Annina B Schmid
- , Yesim Parman
- , Luitgard Graul-Neumann
- , Wolfram Heinritz
- , Eberhard Passarge
- , Rosemarie M Watson
- , Jens Michael Hertz
- , Ute Moog
- , Manuela Baumgartner
- , Enza Maria Valente
- , Diego Pereira
- , Carlos M Restrepo
- , Istvan Katona
- , Marina Dusl
- , Claudia Stendel
- , Thomas Wieland
- , Fay Stafford
- , Frank Reimann
- , Katja von Au
- , Christian Finke
- , Patrick J Willems
- , Michael S Nahorski
- , Samiha S Shaikh
- , Ofélia P Carvalho
- , Adeline K Nicholas
- , Gulshan Karbani
- , Maeve A McAleer
- , Maria Roberta Cilio
- , John C McHugh
- , Sinead M Murphy
- , Alan D Irvine
- , Uffe Birk Jensen
- , Reinhard Windhager
- , Joachim Weis
- , Carsten Bergmann
- , Bernd Rautenstrauss
- , Jonathan Baets
- , Peter De Jonghe
- , Mary M Reilly
- , Regina Kropatsch
- , Ingo Kurth
- , Roman Chrast
- , Tatsuo Michiue
- , David L H Bennett
- , C Geoffrey Woods
- & Jan Senderek
Nature Genetics 47 , 962–962

Rights & permissionsfor article Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception . Opens in a new window.
5 April 2004
IL-6 is required for glioma development in a mouse model
Oncogene 23 , 3308–3316

Rights & permissionsfor article IL-6 is required for glioma development in a mouse model . Opens in a new window.
21 February 2005
Signalling pathways leading to neuroblastoma differentiation after serum withdrawal: HDL blocks neuroblastoma differentiation by inhibition of EGFR
Oncogene 24 , 3309–3318

Rights & permissionsfor article Signalling pathways leading to neuroblastoma differentiation after serum withdrawal: HDL blocks neuroblastoma differentiation by inhibition of EGFR . Opens in a new window.
Research | 13 November 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
- Jan Senderek
- , Michael Krieger
- , Claudia Stendel
- , Carsten Bergmann
- , Markus Moser
- , Nico Breitbach-Faller
- , Sabine Rudnik-Schöneborn
- , Astrid Blaschek
- , Nicole I Wolf
- , Inga Harting
- , Kathryn North
- , Janine Smith
- , Francesco Muntoni
- , Martin Brockington
- , Susana Quijano-Roy
- , Francis Renault
- , Ralf Herrmann
- , Linda M Hendershot
- , J Michael Schröder
- , Hanns Lochmüller
- , Haluk Topaloglu
- , Thomas Voit
- , Joachim Weis
- , Friedrich Ebinger
- & Klaus Zerres
Nature Genetics 37 , 1312–1314

Rights & permissionsfor article Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy . Opens in a new window.
Research | 23 January 2018 | Open
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation
- Marcel Naumann
- , Arun Pal
- , Anand Goswami
- , Xenia Lojewski
- , Julia Japtok
- , Anne Vehlow
- , Maximilian Naujock
- , René Günther
- , Mengmeng Jin
- , Nancy Stanslowsky
- , Peter Reinhardt
- , Jared Sterneckert
- , Marie Frickenhaus
- , Francisco Pan-Montojo
- , Erik Storkebaum
- , Ina Poser
- , Axel Freischmidt
- , Jochen H. Weishaupt
- , Karlheinz Holzmann
- , Dirk Troost
- , Albert C. Ludolph
- , Tobias M. Boeckers
- , Stefan Liebau
- , Susanne Petri
- , Nils Cordes
- , Anthony A. Hyman
- , Florian Wegner
- , Stephan W. Grill
- , Joachim Weis
- , Alexander Storch
- & Andreas Hermann
Nature Communications 9 , 1–17

Rights & permissionsfor article Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation . Opens in a new window.
16 June 2017 | Open
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins
- Alice Dreser
- , Jan Tilmann Vollrath
- , Antonio Sechi
- , Sonja Johann
- , Andreas Roos
- , Alfred Yamoah
- , Istvan Katona
- , Saeed Bohlega
- , Dominik Wiemuth
- , Yuemin Tian
- , Axel Schmidt
- , Jörg Vervoorts
- , Marc Dohmen
- , Cordian Beyer
- , Jasper Anink
- , Eleonora Aronica
- , Dirk Troost
- , Joachim Weis
- & Anand Goswami
Cell Death and Differentiation 24 , 1655–1671

Rights & permissionsfor article The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins . Opens in a new window.
20 June 2016
Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism
Laboratory Investigation 96 , 872–884

Rights & permissionsfor article Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism . Opens in a new window.
Research | 8 December 2015 | Open
Cold-aggravated pain in humans caused by a hyperactive Na_V1.9 channel mutant
- Enrico Leipold
- , Andrea Hanson-Kahn
- , Miya Frick
- , Ping Gong
- , Jonathan A. Bernstein
- , Martin Voigt
- , Istvan Katona
- , R. Oliver Goral
- , Janine Altmüller
- , Peter Nürnberg
- , Joachim Weis
- , Christian A. Hübner
- , Stefan H. Heinemann
- & Ingo Kurth
Nature Communications 6 , 1–11

Rights & permissionsfor article Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant . Opens in a new window.
Research | 3 June 2015
Regulation of endoplasmic reticulum turnover by selective autophagy
- Aliaksandr Khaminets
- , Theresa Heinrich
- , Muriel Mari
- , Paolo Grumati
- , Antje K. Huebner
- , Masato Akutsu
- , Lutz Liebmann
- , Alexandra Stolz
- , Sandor Nietzsche
- , Nicole Koch
- , Mario Mauthe
- , Istvan Katona
- , Britta Qualmann
- , Joachim Weis
- , Fulvio Reggiori
- , Ingo Kurth
- , Christian A. Hübner
- & Ivan Dikic
Nature 522 , 354–358

Rights & permissionsfor article Regulation of endoplasmic reticulum turnover by selective autophagy . Opens in a new window.
Research | 15 September 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
- Enrico Leipold
- , Lutz Liebmann
- , G Christoph Korenke
- , Theresa Heinrich
- , Sebastian Gießelmann
- , Jonathan Baets
- , Matthias Ebbinghaus
- , R Oliver Goral
- , Tommy Stödberg
- , J Christopher Hennings
- , Markus Bergmann
- , Janine Altmüller
- , Holger Thiele
- , Andrea Wetzel
- , Peter Nürnberg
- , Vincent Timmerman
- , Peter De Jonghe
- , Robert Blum
- , Hans-Georg Schaible
- , Joachim Weis
- , Stefan H Heinemann
- , Christian A Hübner
- & Ingo Kurth
Nature Genetics 45 , 1399–1404

Rights & permissionsfor article A de novo gain-of-function mutation in SCN11A causes loss of pain perception . Opens in a new window.
Research | 5 January 2015
Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS
Nature Neuroscience 18 , 227–238

Rights & permissionsfor article Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS . Opens in a new window.
Research | 25 May 2015
Transcriptional regulator PRDM12 is essential for human pain perception
- Ya-Chun Chen
- , Michaela Auer-Grumbach
- , Shinya Matsukawa
- , Manuela Zitzelsberger
- , Andreas C Themistocleous
- , Tim M Strom
- , Chrysanthi Samara
- , Adrian W Moore
- , Lily Ting-Yin Cho
- , Gareth T Young
- , Caecilia Weiss
- , Maria Schabhüttl
- , Rolf Stucka
- , Annina B Schmid
- , Yesim Parman
- , Luitgard Graul-Neumann
- , Wolfram Heinritz
- , Eberhard Passarge
- , Rosemarie M Watson
- , Jens Michael Hertz
- , Ute Moog
- , Manuela Baumgartner
- , Enza Maria Valente
- , Diego Pereira
- , Carlos M Restrepo
- , Istvan Katona
- , Marina Dusl
- , Claudia Stendel
- , Thomas Wieland
- , Fay Stafford
- , Frank Reimann
- , Katja von Au
- , Christian Finke
- , Patrick J Willems
- , Michael S Nahorski
- , Samiha S Shaikh
- , Ofélia P Carvalho
- , Adeline K Nicholas
- , Gulshan Karbani
- , Maeve A McAleer
- , Maria Roberta Cilio
- , John C McHugh
- , Sinead M Murphy
- , Alan D Irvine
- , Uffe Birk Jensen
- , Reinhard Windhager
- , Joachim Weis
- , Carsten Bergmann
- , Bernd Rautenstrauss
- , Jonathan Baets
- , Peter De Jonghe
- , Mary M Reilly
- , Regina Kropatsch
- , Ingo Kurth
- , Roman Chrast
- , Tatsuo Michiue
- , David L H Bennett
- , C Geoffrey Woods
- & Jan Senderek
Nature Genetics 47 , 803–808

Rights & permissionsfor article Transcriptional regulator PRDM12 is essential for human pain perception . Opens in a new window.
Research | 24 January 2010
Axonal prion protein is required for peripheral myelin maintenance
- Juliane Bremer
- , Frank Baumann
- , Cinzia Tiberi
- , Carsten Wessig
- , Heike Fischer
- , Petra Schwarz
- , Andrew D Steele
- , Klaus V Toyka
- , Klaus-Armin Nave
- , Joachim Weis
- & Adriano Aguzzi
Nature Neuroscience 13 , 310–318

Rights & permissionsfor article Axonal prion protein is required for peripheral myelin maintenance . Opens in a new window.
Research | 3 March 2013
Merlin isoform 2 in neurofibromatosis type 2–associated polyneuropathy
- Alexander Schulz
- , Stephan L Baader
- , Michiko Niwa-Kawakita
- , Marie Juliane Jung
- , Reinhard Bauer
- , Cynthia Garcia
- , Ansgar Zoch
- , Stephan Schacke
- , Christian Hagel
- , Victor-Felix Mautner
- , C Oliver Hanemann
- , Xin-Peng Dun
- , David B Parkinson
- , Joachim Weis
- , J Michael Schröder
- , David H Gutmann
- , Marco Giovannini
- & Helen Morrison
Nature Neuroscience 16 , 426–433

Rights & permissionsfor article Merlin isoform 2 in neurofibromatosis type 2–associated polyneuropathy . Opens in a new window.

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Kinetics of ventilation-induced changes in diaphragmatic metabolism by bilateral phrenic pacing in a piglet model

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

IL-6 is required for glioma development in a mouse model

Signalling pathways leading to neuroblastoma differentiation after serum withdrawal: HDL blocks neuroblastoma differentiation by inhibition of EGFR

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins

Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism

Cold-aggravated pain in humans caused by a hyperactive Na_V1.9 channel mutant

Regulation of endoplasmic reticulum turnover by selective autophagy

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS

Transcriptional regulator PRDM12 is essential for human pain perception

Axonal prion protein is required for peripheral myelin maintenance

Merlin isoform 2 in neurofibromatosis type 2–associated polyneuropathy

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