Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being -
SDG 9 Industry, Innovation, and Infrastructure -
SDG 12 Responsible Consumption and Production
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Dive into the research topics where Heinz Jungbluth is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC cardiomyocytes
Erdal, M. S., Qi, J., Erusappan, P. M., Schubert, M., Koser, F., Basson, A., Fischer, K., Dzekhtsiarova, Y., Mehnert, C., Poetsch, M., Fomin, A., Hou, Y., Laasmaa, M., Ugland, H. K., Lunde, I. G., Gautel, M., Longman, C., Jungbluth, H., Sundnes, J. & Linke, W. A. & 3 others, , Sept 2026, In: Journal of Molecular and Cellular Cardiology. 218, p. 130-136 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Clinical and biochemical footprints of inherited disorders of autophagy
Jungbluth, H., Dafsari, H. S., Ferreira, C. R. & Blau, N., 1 Sept 2026, In: MOLECULAR GENETICS AND METABOLISM. 149, 1-2, 110248.Research output: Contribution to journal › Review article › peer-review
Open Access -
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Ramdas, S., Dong, Y. Y., Munot, P., Natera de Benito, D., Osorio, A. N., Maggi, L., Bönnemann, C. G., McAnally, M., Schara-Schmidt, U., Della Marina, A., Kostera-Pruszczyk, A., Milone, M., Evoli, A., Jungbluth, H., Lochmüller, H., Beeson, D., Reddel, S. & Palace, J., 3 Jun 2026, In: Brain : a journal of neurology. 149, 6, p. 1816-1818 3 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)92 Downloads (Pure) -
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders
Robinson, R. L., Gardeitchik, T., Schouten, M. I., Jungbluth, H., Voermans, N. C., Stowell, K., Hopkins, P. M., Girard, T., Gutowska-Ding, W., Sheils, K. & Kamsteeg, E.-J., 12 May 2026, (E-pub ahead of print) In: European Journal of Human Genetics.Research output: Contribution to journal › Review article › peer-review
Open Access2 Citations (Scopus) -
Humidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice
He, M., Riazi, S., van den Bersselaar, L. R., Islander, G., Gillies, R., Hellblom, A., Voermans, N. C., Temurziev, S., Jungbluth, H. & Dirksen, R. T., Dec 2026, In: Skeletal Muscle. 16, 1, 10.Research output: Contribution to journal › Article › peer-review
Open Access
Projects
- 7 Finished
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The prevalence of RYR1-related disease
Jungbluth, H. (Primary Investigator) & Wang, Y. (Co-Investigator)
1/09/2024 → 15/09/2026
Project: Research
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DRIVE - Driving next generation autophagy researchers towards translation
Jungbluth, H. (Primary Investigator) & Gautel, M. (Co-Investigator)
1/10/2017 → 30/04/2022
Project: Research
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A translational approach to neurodevelopmental disorders associated with defective autophagy.
Jungbluth, H. (Primary Investigator) & Fanto, M. (Co-Investigator)
1/01/2016 → 31/08/2022
Project: Research
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Research Training network on autophagy and its clinical translation (REACT)
Jungbluth, H. (Primary Investigator), Fanto, M. (Co-Investigator) & academic, A. (Co-Investigator)
1/10/2015 → 30/09/2019
Project: Research
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Secondary pathogenetic mechanisms in XLMTM and CNM
Jungbluth, H. (Primary Investigator) & Gautel, M. (Co-Investigator)
1/07/2013 → 30/06/2016
Project: Research
Datasets
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Additional file 3 of A comprehensive framework for the interpretation of TTN missense variants
Di Feo, M. F., Rees, M., Lillback, V., Kho, A. L., Meybatova, A., Holt, M., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A., Fiorillo, C., Baratto, S., Bruno, C., Traverso, M., Iacomino, M., Pedemonte, M., Brolatti, N., Faravelli, F., Zara, F., Mandarà, G. M. L., Beggs, A. H., Genetti, C. A., Barraza-Flores, P., Rodolico, C., Messina, S., Schnabel, F., Balogh, I., Szakszon, K., Sarv, S., Õunap, K., Ricci, F. S., Mussa, A., Malfatti, E., Bertini, E. S., D’Amico, A., Diodato, D., Catteruccia, M., Ravenscroft, G., Johari, M., Kurbatov, S. A., Chausova, P., Murtazina, A., Kuchina, A., Shchagina, O., Drakos, M., Spilioti, M., Evangeliou, A. E., Zaganas, I., Zhong, H., Luo, S., Merlini, L., Nguyen, C.-T.-E., Tasca, G., Reeves, T., Mörner, S., Danielsson, O., Udd, B., Gautel, M. & Savarese, M., figshare, 26 Feb 2026
DOI: 10.6084/m9.figshare.31840484
Dataset
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Additional file 1 of A comprehensive framework for the interpretation of TTN missense variants
Di Feo, M. F., Rees, M., Lillback, V., Kho, A. L., Meybatova, A., Holt, M., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A., Fiorillo, C., Baratto, S., Bruno, C., Traverso, M., Iacomino, M., Pedemonte, M., Brolatti, N., Faravelli, F., Zara, F., Mandarà, G. M. L., Beggs, A. H., Genetti, C. A., Barraza-Flores, P., Rodolico, C., Messina, S., Schnabel, F., Balogh, I., Szakszon, K., Sarv, S., Õunap, K., Ricci, F. S., Mussa, A., Malfatti, E., Bertini, E. S., D’Amico, A., Diodato, D., Catteruccia, M., Ravenscroft, G., Johari, M., Kurbatov, S. A., Chausova, P., Murtazina, A., Kuchina, A., Shchagina, O., Drakos, M., Spilioti, M., Evangeliou, A. E., Zaganas, I., Zhong, H., Luo, S., Merlini, L., Nguyen, C.-T.-E., Tasca, G., Reeves, T., Mörner, S., Danielsson, O., Udd, B., Gautel, M. & Savarese, M., figshare, 26 Feb 2026
DOI: 10.6084/m9.figshare.31840472
Dataset
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Additional file 4 of A comprehensive framework for the interpretation of TTN missense variants
Di Feo, M. F., Rees, M., Lillback, V., Kho, A. L., Meybatova, A., Holt, M., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A., Fiorillo, C., Baratto, S., Bruno, C., Traverso, M., Iacomino, M., Pedemonte, M., Brolatti, N., Faravelli, F., Zara, F., Mandarà, G. M. L., Beggs, A. H., Genetti, C. A., Barraza-Flores, P., Rodolico, C., Messina, S., Schnabel, F., Balogh, I., Szakszon, K., Sarv, S., Õunap, K., Ricci, F. S., Mussa, A., Malfatti, E., Bertini, E. S., D’Amico, A., Diodato, D., Catteruccia, M., Ravenscroft, G., Johari, M., Kurbatov, S. A., Chausova, P., Murtazina, A., Kuchina, A., Shchagina, O., Drakos, M., Spilioti, M., Evangeliou, A. E., Zaganas, I., Zhong, H., Luo, S., Merlini, L., Nguyen, C.-T.-E., Tasca, G., Reeves, T., Mörner, S., Danielsson, O., Udd, B., Gautel, M. & Savarese, M., figshare, 26 Feb 2026
DOI: 10.6084/m9.figshare.31840487
Dataset
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Thermoregulation during exercise under controlled hot ambient conditions is comparable in individuals with a history of exertional heat stroke, RYR1-related malignant hyperthermia, and healthy controls
Kruijt, N., van de Camp, S. A. J. H., Hopman, M. T. E., van den Bersselaar, L. R., Jungbluth, H., Eijsvogels, T. M. H., Voermans, N. C. & Bongers, C. C. W. G., Taylor & Francis, 4 Nov 2025
DOI: 10.6084/m9.figshare.30530683
Dataset
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The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
Deneubourg, C., Ramm, M., Smith, L. J., Baron, O., Singh, K., Byrne, S. C., Duchen, M. R., Gautel, M., Eskelinen, E.-L., Fanto, M. & Jungbluth, H., Taylor & Francis, 19 Oct 2021
DOI: 10.6084/m9.figshare.14790043
Dataset