Heinz Jungbluth (H Jungbluth)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 15

Top Topics

Endoplasmic Reticulum

Deep Brain Stimulation

Top Venues

Acta neuropathologica

Expert opinion on therapeutic targets

European journal of neurology

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Heinz Jungbluth, Dennis T Famili, Rick C Helmich, Stefano Previtali, Nicol C Voermans
"RYR1 and the cerebellum": scientific commentary on "Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium 'Leak' in Tremor Pathophysiology". Acta neuropathologica 147 (1) (2024)
Heinz Jungbluth, Dennis T Famili, Rick C Helmich, Stefano Previtali, Nicol C Voermans
"RYR1 and the cerebellum": scientific commentary on "Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium 'Leak' in Tremor Pathophysiology". Acta neuropathologica 147 (1) (2024)
Heinz Jungbluth, Dennis T Famili, Rick C Helmich, Stefano Previtali, Nicol C Voermans
"RYR1 and the cerebellum": scientific commentary on "Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium 'Leak' in Tremor Pathophysiology". Acta neuropathologica 147 (1) (2024)
Sithara Ramdas, Teresa Painho, Maria I Vanegas, Dennis T Famili, Ming J Lim, Heinz Jungbluth
Targeted Treatments for Myasthenia Gravis in Children and Adolescents. Paediatric drugs (2024)
Thomas J Maycock, Thomas Rossor, Maria Vanegas, Paul Gringras, Heinz Jungbluth
Child Neurology: Common Occurrence of Narcolepsy Type 1 and Myasthenia Gravis. Neurology 103 (3) (2024)
Heinz Jungbluth, Dennis T Famili, Rick C Helmich, Stefano Previtali, Nicol C Voermans
"RYR1 and the cerebellum": scientific commentary on "Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium 'Leak' in Tremor Pathophysiology". Acta neuropathologica 147 (1) (2024)
Gemma Fisher, Laurane Mackels, Theodora Markati, Anna Sarkozy, Julien Ochala, Heinz Jungbluth, Sithara Ramdas, Laurent Servais
Early clinical and pre-clinical therapy development in Nemaline myopathy. Expert opinion on therapeutic targets (2022)
Aishin Lok, Miguel A Fernandez-Garcia, Robert W Taylor, Courtney French, Robert MacFarland, Istvan Bodi, Michael Champion, Dragana Josifova, Frances Lucy Raymond, Arcangela Iuso, Heinz Jungbluth, Anna Milan, Rahul R Singh
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders. American journal of medical genetics. Part A 188 (9) (2022)
Luuk R Van den Bersselaar, Luc Heytens, Helga C A Silva, Jens Reimann, Giorgio Tasca, Óscar Díaz-Cambronero, Nicoline Løkken, Anna Hellblom, Philip M Hopkins, Henrik Rueffert, Börge Bastian, Juan Jesus Vilchez, Robyn Gillies, Stephan Johannsen, Francis Veyckemans, Tino Muenster, Andrea Klein, Ron Litman, Heinz Jungbluth, Sheila Riazi, Nicol C Voermans, Marc M J Snoeck
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. European journal of neurology 29 (12) (2022)
Gemma Fisher, Laurane Mackels, Theodora Markati, Anna Sarkozy, Julien Ochala, Heinz Jungbluth, Sithara Ramdas, Laurent Servais
Early clinical and pre-clinical therapy development in Nemaline myopathy. Expert opinion on therapeutic targets 26 (10) (2022)
Gemma Fisher, Laurane Mackels, Theodora Markati, Anna Sarkozy, Julien Ochala, Heinz Jungbluth, Sithara Ramdas, Laurent Servais
Early clinical and pre-clinical therapy development in Nemaline myopathy. Expert opinion on therapeutic targets 26 (10) (2022)
Gemma Fisher, Laurane Mackels, Theodora Markati, Anna Sarkozy, Julien Ochala, Heinz Jungbluth, Sithara Ramdas, Laurent Servais
Early clinical and pre-clinical therapy development in Nemaline myopathy. Expert opinion on therapeutic targets 26 (10) (2022)
Stacha F I Reumers, Frederik Braun, Jennifer L Spillane, Johann Böhm, Maartje Pennings, Meyke Schouten, Anneke J van der Kooi, A Reghan Foley, Carsten G Bonnemann, Erik-Jan Kamsteeg, Corrie E Erasmus, Ulrike Schara-Schmidt, Heinz Jungbluth, Nicol C Voermans
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study. Neurology 97 (5) (2021)
Nick Kruijt, Luuk R Van den Bersselaar, Erik-Jan Kamsteeg, W Verbeeck, M M J Snoeck, D S Everaerd, Wilson F Abdo, David R M Jansen, Corrie E Erasmus, Heinz Jungbluth, Nicol C Voermans
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers. European journal of neurology 28 (2) (2020)
Renaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, Florent Marguet, Susan Byrne, Rachael Mein, Shu Yau, Shehla Mohammed, Laurent Guibaud, Mathias Gautel, Heinz Jungbluth
Autopsy findings in EPG5-related Vici syndrome with antenatal onset. American journal of medical genetics. Part A 173 (9) (2017)