Heinz Jungbluth

2023

Exertional Heat Stroke and Rhabdomyolysis: A Medical Record Review and Patient Perspective on Management and Long-Term Symptoms

Kruijt, N., van den Bersselaar, L. R., Hopman, M. T. E., Snoeck, M. M. J., van Rijswick, M., Wiggers, T. G. H., Jungbluth, H., Bongers, C. C. W. G. & Voermans, N. C., 19 May 2023, In: Sports Medicine - Open. 9, 1, 33.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Gene therapy for spinal muscular atrophy

Gowda, V. L., Jungbluth, H. & Wraige, E., 1 Oct 2023, In: Archives of Disease in Childhood: Education and Practice Edition. 108, 5, p. 347-350 4 p., archdischild-2023-325359.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility

Van Den Bersselaar, L. R., Van Alfen, N., Kruijt, N., Kamsteeg, E. J., Fernandez-Garcia, M. A., Treves, S., Riazi, S., Yang, C. Y., Malagon, I., Van Eijk, L. T., Van Engelen, B. G. M., Scheffer, G. J., Jungbluth, H., Snoeck, M. M. J. & Voermans, N. C., 4 Jul 2023, In: Journal of Neuromuscular Diseases. 10, 4, p. 541-554 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia-Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability

Ibarra Moreno, C. A., Kraeva, N., Zvaritch, E., Jungbluth, H., Voermans, N. C. & Riazi, S., 1 Mar 2023, In: Anesthesia and Analgesia. 136, 3, p. 569-577 9 p.

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Pancreatitis in RYR1-related disorders

Famili, D. T., Mistry, A., Gerasimenko, O., Gerasimenko, J., Tribe, R. M., Kyrana, E., Dhawan, A., Goldberg, M. F., Voermans, N., Willis, T. & Jungbluth, H., 15 Sept 2023, (E-pub ahead of print) In: Neuromuscular Disorders. 33, 10, p. 769-775 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Respiratory features of centronuclear myopathy in the Netherlands

Bouma, S., Cobben, N., Bouman, K., Gaytant, M., van de Biggelaar, R., van Doorn, J., Reumers, S. F. I., Voet, N. BM., Doorduin, J., Erasmus, C. E., Kamsteeg, E. J., Jungbluth, H., Wijkstra, P. & Voermans, N. C., 11 Jun 2023, In: Neuromuscular Disorders. 33, 7, p. 580-588 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene

Wacker, J., Di Bernardo, S., Lobrinus, J. A., Jungbluth, H., Gautel, M., Beghetti, M. & Fluss, J., Sept 2023, In: PEDIATRIC TRANSPLANTATION. 27, 6, e14561.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

Stafki, S. A., Turner, J., Littel, H. R., Bruels, C. C., Truong, D., Knirsch, U., Stettner, G. M., Graf, U., Berger, W., Kinali, M., Jungbluth, H., Pacak, C. A., Hughes, J., Mirchi, A., Derksen, A., Vincent-Delorme, C., Theil, A. F., Bernard, G., Ellis, D., Fassihi, H., & 4 othersLehmann, A. R., Laugel, V., Mohammed, S. & Kang, P. B., Apr 2023, In: Pediatric neurology. 141, p. 79-86 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

2022

259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28-29 May, 2021

Anaesthesia and Neuromuscular Disorders Working Group, Jan 2022, In: Neuromuscular Disorders. 32, 1, p. 86-97 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Citations (Scopus)

Clinical Reasoning: A Teenage Girl With Progressive Hyperkinetic Movements, Seizures, and Encephalopathy

Khamis, S., Mitakidou, M. R., Champion, M., Goyal, S., Jones, R. L., Siddiqui, A., Sabanathan, S., Hedderly, T., Lin, J-P., Jungbluth, H. & Papandreou, A., 21 Sept 2022, (E-pub ahead of print) In: Neurology. p. 10.1212/WNL.0000000000201385

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

van den Bersselaar, L. R., Heytens, L., Silva, H. C. A., Reimann, J., Tasca, G., Díaz-Cambronero, Ó., Løkken, N., Hellblom, A., Hopkins, P. M., Rueffert, H., Bastian, B., Vilchez, J. J., Gillies, R., Johannsen, S., Veyckemans, F., Muenster, T., Klein, A., Litman, R., Jungbluth, H., Riazi, S., & 2 othersVoermans, N. C. & Snoeck, M. M. J., Dec 2022, In: European Journal of Neurology. 29, 12, p. 3486-3507 22 p.

Research output: Contribution to journal › Article › peer-review

Open Access

26 Citations (Scopus)

Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort

Franken, D. K., Bouman, K., Reumers, S. F. I., Braun, F., Spillane, J., Pennings, M., Houwen, S. L. S., Erasmus, C. E., Schara-Schmidt, U., Kamsteeg, E. J., Jungbluth, H. & Voermans, N. C., 15 Nov 2022, In: Neurology. 99, 20, p. E2223-E2233

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Neuromuscular Features in XL-MTM Carriers: A Cross-Sectional Study in an Unselected Cohort

Franken, D. K., Bouman, K., Reumers, S. F. I., Braun, F., Spillane, J., Pennings, M., Houwen, S. L. S., Erasmus, C. E., Schara-Schmidt, U., Kamsteeg, E-J., Jungbluth, H. & Voermans, N. C., 15 Nov 2022, In: Neurology. p. 10.1212/WNL.0000000000201084

Research output: Contribution to journal › Article › peer-review

Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis

Van Den Bersselaar, L. R., Jungbluth, H., Kruijt, N., Kamsteeg, E. J., Fernandez-Garcia, M. A., Treves, S., Riazi, S., Malagon, I., Van Eijk, L. T., Van Alfen, N., Van Engelen, B. G. M., Scheffer, G. J., Snoeck, M. M. J. & Voermans, N. C., 2022, In: Brain Communications. 4, 6, fcac292.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Citations (Scopus)

Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy

The UK Northstar Clinical Network, 4 Feb 2022, In: Developmental Medicine and Child Neurology. 64, 8, p. 979-988 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Citations (Scopus)

Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands -A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists

van den Bersselaar, L. R., Gubbels, M. H. M., Jungbluth, H., Schouten, M. I., van der Kooi, A. J., Quinlivan, R., Scheffer, G. J., Riazi, S., Snoeck, M. M. J. & Voermans, N. C., 14 Sept 2022, (E-pub ahead of print) In: Journal of Neuromuscular Diseases.

Research output: Contribution to journal › Article › peer-review

Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)

Riazi, S., Bersselaar, L. R. V. D., Islander, G., Heytens, L., Snoeck, M. M. J., Bjorksten, A., Gillies, R., Dranitsaris, G., Hellblom, A., Treves, S., Kunst, G., Voermans, N. C. & Jungbluth, H., Aug 2022, In: Neuromuscular Disorders. 32, 8, p. 628-634 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Citations (Scopus)

Referral indications for malignant hyperthermia susceptibility diagnostics in patients without adverse anesthetic events in the era of next-generation sequencing

van den Bersselaar, L. R., Hellblom, A., Gashi, M., Kamsteeg, E-J., Voermans, N. C., Jungbluth, H., de Puydt, J., Heytens, L., Riazi, S. & Snoeck, M. M., 1 Jun 2022, In: Anesthesiology. 136, 6, p. 940-953 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Citations (Scopus)

Rituximab in juvenile myasthenia gravis-an international cohort study and literature review

Ramdas, S., Della Marina, A., Ryan, M. M., McWilliam, K., Klein, A., Jacquier, D., Alabaf, S., Childs, A. M., Parasuraman, D., Beeson, D., Palace, J. & Jungbluth, H., Sept 2022, In: European Journal of Paediatric Neurology. 40, p. 5-10 6 p.

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

SARS-CoV-2 vaccination and new-onset myasthenia gravis: A report of 7 cases and review of the literature

Ramdas, S., Hum, R. M., Price, A., Paul, A., Bland, J., Burke, G., Farrugia, M., Palace, J., Storrie, A., Ho, P., Standing, E., Lilleker, J. B. & Jungbluth, H., Oct 2022, In: Neuromuscular Disorders. 32, 10, p. 785-789 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Citations (Scopus)

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

Bachmann, C., Franchini, M., Van den Bersselaar, L. R., Kruijt, N., Voermans, N. C., Bouman, K., Kamsteeg, E-J., Knop, K. C., Ruggiero, L., Santoro, L., Nevo, Y., Wilmshurst, J., Vissing, J., Sinnreich, M., Zorzato, D., Muntoni, F., Jungbluth, H., Zorzato, F. & Treves, S., 2 Sept 2022, (E-pub ahead of print) In: Brain Communications. 4, 5, p. fcac224

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

2021

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Genomics England Research Consortium, 1 Feb 2021, In: Brain : a journal of neurology. 144, 2, p. 584-600 17 p.

Research output: Contribution to journal › Article › peer-review

22 Citations (Scopus)

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands

Reumers, S. F. I., Erasmus, C. E., Bouman, K., Pennings, M., Schouten, M., Kusters, B., Duijkers, F. A. M., van der Kooi, A., Jaeger, B., Verschuuren-Bemelmans, C. C., Faber, C. G., van Engelen, B. G., Kamsteeg, E. J., Jungbluth, H. & Voermans, N. C., Dec 2021, In: Clinical Genetics. 100, 6, p. 692-702 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Citations (Scopus)

Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

Bayram, N., Kaçar Bayram, A., Daimagüler, H. S., Salimi Dafsari, H., Bamborschke, D., Uyanik, G., Erdogan, M., Özsaygılı, C., Pangal, E., Yuvaci, İ., Doğanay, S., Gümüş, H., Per, H., Jungbluth, H. & Çırak, S., 2 Jun 2021, (E-pub ahead of print) In: European Journal of Ophthalmology. p. 11206721211021291

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Autophagy, Jan 2021, In: Autophagy. 17, 1, p. 1-382 382 p.

Research output: Contribution to journal › Article › peer-review

1501 Citations (Scopus)

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

Hathazi, D., Cox, D., D'Amico, A., Tasca, G., Charlton, R., Carlier, R. Y., Baumann, J., Kollipara, L., Zahedi, R. P., Feldmann, I., Deleuze, J. F., Torella, A., Cohn, R., Robinson, E., Ricci, F., Jungbluth, H., Fattori, F., Boland, A., O'Connor, E., Horvath, R., & 8 othersBarresi, R., Lochmüller, H., Urtizberea, A., Jacquemont, M. L., Nelson, I., Swan, L., Bonne, G. & Roos, A., 1 Aug 2021, In: Brain. 144, 8, p. 2427-2442 16 p.

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study

Reumers, S. F. I., Braun, F., Spillane, J. E., Böhm, J., Pennings, M., Schouten, M., van der Kooi, A. J., Foley, A. R., Bönnemann, C. G., Kamsteeg, E. J., Erasmus, C. E., Schara-Schmidt, U., Jungbluth, H. & Voermans, N. C., 3 Aug 2021, In: Neurology. 97, 5, p. e501-e512

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol

van den Bersselaar, L. R., Kruijt, N., Scheffer, G. J., van Eijk, L., Malagon, I., Buckens, S., Custers, J. A., Helder, L., Greco, A., Joosten, L. A., van Engelen, B. G., van Alfen, N., Riazi, S., Treves, S., Jungbluth, H., Snoeck, M. M. & Voermans, N. C., 20 Aug 2021, In: Medicine. 100, 33, p. e26999

Research output: Contribution to journal › Article › peer-review

Open Access

8 Citations (Scopus)

2020

Making sense of missense variants in TTN-related congenital myopathies

Rees, M., Nikoopour, R., Fukuzawa, A., Kho, A. L., Fernandez-Garcia, M., Wraige, E., Bodi, I., Deshpande, C., Özdemir, Ö., Daimagüler, H-S., Pfuhl, M., Holt, M., Brandmeier, B., Grover, S., Longman, C., Farrugia, M. E., Fluss, J., Matthews, E., Hanna, M., Muntoni, F., & 25 othersSarkozy, A., Phadke, R., Quinlivan, R., Oates, E., Schröder, R., Thiel, C., Reimann, J., Voermans, N., Erasmus, C., Kamsteeg, E-J., Konersman, C., Grosmann, C., Mckee, S., Tirupathi, S., Moore, S. A., Wilichowski, E., Hobbiebrunken, E., Dekomien, G., Richard, I., van den Bergh, P., Domínguez-González, C., Cirak, S., Ferreiro, A., Jungbluth, H. & Gautel, M., 20 Dec 2020, (Accepted/In press) In: Acta Neuropathologica.

Research output: Contribution to journal › Article › peer-review

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

Ross, J. A., Tasfaout, H., Levy, Y., Morgan, J., Cowling, B. S., Laporte, J., Zanoteli, E., Romero, N. B., Lowe, D. A., Jungbluth, H., Lawlor, M. W., Mack, D. L. & Ochala, J., 1 Dec 2020, In: Acta Neuropathologica Communications. 8, 1, 167.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Citations (Scopus)

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature

Phadke, R., Hedberg-Oldfors, C., Scalco, R. S., Lowe, D. M., Ashworth, M., Novelli, M., Vara, R., Merwick, A., Amer, H., Sofat, R., Sugarman, M., Jovanovic, A., Roberts, M., Nakou, V., King, A., Bodi, I., Jungbluth, H., Oldfors, A. & Murphy, E., 1 Sept 2020, In: Journal of Inherited Metabolic Disease. 43, 5, p. 1002-1013 12 p.

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

Kruijt, N., van den Bersselaar, L. R., Kamsteeg, E. J., Verbeeck, W., Snoeck, M. M. J., Everaerd, D. S., Abdo, W. F., Jansen, D. R. M., Erasmus, C. E., Jungbluth, H. & Voermans, N. C., 2020, (Accepted/In press) In: European Journal of Neurology.

Research output: Contribution to journal › Article › peer-review

Open Access

31 Citations (Scopus)

2019

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

Bachmann, C., Noreen, F., Voermans, N. C., Schär, P. L., Vissing, J., Fock, J. M., Bulk, S., Kusters, B., Moore, S. A., Beggs, A. H., Mathews, K. D., Meyer, M., Genetti, C. A., Meola, G., Cardani, R., Mathews, E., Jungbluth, H., Muntoni, F., Zorzato, F. & Treves, S., 1 Jul 2019, In: Human Mutation. 40, 7, p. 962-974 13 p.

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

Ardicli, D., Sarkozy, A., Zaharieva, I., Deshpande, C., Bodi, I., Siddiqui, A., U-King-Im, J. M., Selfe, A., Phadke, R., Jungbluth, H. & Muntoni, F., 1 Jun 2019, In: Neuromuscular Disorders. 29, 6, p. 448-455 8 p.

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series

Zvaritch, E., Gillies, R., Kraeva, N., Richer, M., Jungbluth, H. & Riazi, S., 15 May 2019, In: Canadian Journal of Anaesthesia. 66, 5, p. 540-545 6 p.

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E., & 3 othersHardeman, E. C., Wallgren-Pettersson, C. & Ochala, J., 1 Sept 2019, In: Acta Neuropathologica. 138, 3, p. 477-495 19 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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25 Citations (Scopus)

225 Downloads (Pure)

Recessive MYH7-related myopathy in two families

Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A. & Jungbluth, H., 1 Jun 2019, In: Neuromuscular Disorders. 29, 6, p. 456-467 12 p.

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Knuiman, G. J., Küsters, B., Eshuis, L., Snoeck, M., Lammens, M., Heytens, L., De Ridder, W., Baets, J., Scalco, R. S., Quinlivan, R., Holton, J., Bodi, I., Wraige, E., Radunovic, A., von Landenberg, C., Reimann, J., Kamsteeg, E. J., Sewry, C., Jungbluth, H. & Voermans, N. C., Apr 2019, In: Journal of Neurology. 266, 4, p. 876-887 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

27 Citations (Scopus)

Therapeutic Aspects in Congenital Myopathies

Jungbluth, H. & Muntoni, F., 1 Apr 2019, In: Seminars in Pediatric Neurology. 29, p. 71-82 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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13 Citations (Scopus)

253 Downloads (Pure)

Transcriptional regulation of the Glutamate/GABA/Glutamine cycle in adult glia controls motor activity and seizures in Drosophila

Mazaud, D., Kottler, B. D., Goncalves Pimentel, C. S., Proelss, S., Tuechler, N., Deneubourg, C. L., Yuasa, Y., Diebold, C., Jungbluth, H., Lai, E. C., Hirth, F., Giangrande, A. & Fanto, M., 3 Jul 2019, In: Journal of Neuroscience. 39, 27, p. 5269-5283 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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21 Citations (Scopus)

241 Downloads (Pure)

2018

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

Matthews, E., Neuwirth, C., Jaffer, F., Scalco, R. S., Fialho, D., Parton, M., Raja Rayan, D., Suetterlin, K., Sud, R., Spiegel, R., Mein, R., Houlden, H., Schaefer, A., Healy, E., Palace, J., Quinlivan, R., Treves, S., Holton, J. L., Jungbluth, H. & Hanna, M. G., 3 Jan 2018, (E-pub ahead of print) In: Neurology. 90, 5, p. e1-e7 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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38 Citations (Scopus)

225 Downloads (Pure)

Driving next-generation autophagy researchers towards translation (DRIVE), an international PhD training program on autophagy

Kraft, C., Boya, P., Codogno, P., Elazar, Z., Eskelinen, E. L., Farrés, J., Kirkin, V., Jungbluth, H., Martinez, A., Pless, O., Primard, C., Proikas-Cezanne, T., Simonsen, A. & Reggiori, F., 13 Sept 2018, (E-pub ahead of print) In: Autophagy. p. 347-351 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects

UK10K Consortium, Ullmann, U., D'Argenzio, L., Mathur, S., Whyte, T., Quinlivan, R., Longman, C., Farrugia, M. E., Manzur, A., Willis, T., Jungbluth, H., Pitt, M., Cirak, S., Feng, L., Stewart, W., Mein, R., Phadke, R., Sewry, C., Sarkozy, A. & Muntoni, F., Sept 2018, In: Neuromuscular Disorders. 28, 9, p. 741-749 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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13 Citations (Scopus)

247 Downloads (Pure)

Functional impairments, fatigue and quality of life in RYR1-related myopathies: a questionnaire study

van Ruitenbeek, E., Custers, J. A. E., Verhaak, C., Snoeck, M., Erasmus, C., Kamsteeg, E. J., Schouten, M. I., Coleman, C., Treves, S., Van Engelen, B. G., Jungbluth, H. & Voermans, N. C., 9 Nov 2018, (E-pub ahead of print) In: Neuromuscular Disorders.

Research output: Contribution to journal › Article › peer-review

Open Access

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19 Citations (Scopus)

250 Downloads (Pure)

Parental mosaicism in RYR1-related Central Core Disease

Marks, S., van Ruitenbeek, E., Fallon, P., Johns, P., Phadke, R., Mein, R., Mohammed, S. & Jungbluth, H., May 2018, In: Neuromuscular Disorders. 28, 5, p. 422-426 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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5 Citations (Scopus)

309 Downloads (Pure)

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Alhaddad, B., Schossig, A., Haack, T. B., Kovács-Nagy, R., Braunisch, M. C., Makowski, C., Senderek, J., Vill, K., Müller-Felber, W., Strom, T. M., Krabichler, B., Freisinger, P., Deshpande, C., Polster, T., Wolf, N. I., Desguerre, I., Wörmann, F., Rötig, A., Ahting, U., Kopajtich, R., & 9 othersProkisch, H., Meitinger, T., Feichtinger, R. G., Mayr, J. A., Jungbluth, H., Hubmann, M., Zschocke, J., Distelmaier, F. & Koch, J., Oct 2018, In: Neuropediatrics. 49, 5, p. 330-338 9 p.

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'Grady, G., Rendu, J., Malfatti, E., Amthor, H., Servais, L., Urtizberea, J. A., Neto, O. A., Zanoteli, E., Donkervoort, S., Taylor, J., Dixon, J., Poke, G., Foley, A. R., Holmes, C., Williams, G., Holder, M., & 15 othersYum, S., Medne, L., Quijano-Roy, S., Romero, N. B., Fauré, J., Feng, L., Bastaki, L., Davis, M. R., Phadke, R., Sewry, C. A., Bönnemann, C. G., Jungbluth, H., Bachmann, C., Treves, S. & Muntoni, F., Dec 2018, In: Human Mutation. 39, 12, p. 1980-1994 15 p.

Research output: Contribution to journal › Article › peer-review

40 Citations (Scopus)

Unusual Presentations of Dystrophinopathies in Childhood

Allen, N. M., Ewer, A., Nakou, V., Konstantoulaki, E., Wraige, E., Gowda, V. & Jungbluth, H., 1 Apr 2018, In: Pediatrics. 141, Suppl 5, p. S510-S514

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4 Citations (Scopus)

2017

Autopsy findings in EPG5-related Vici syndrome with antenatal onset

Touraine, R., Laquerrière, A., Petcu, C. A., Marguet, F., Byrne, S., Mein, R., Yau, S., Mohammed, S., Guibaud, L., Gautel, M. & Jungbluth, H., 27 Jul 2017, (E-pub ahead of print) In: American Journal of Medical Genetics. Part A.

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6 Citations (Scopus)

336 Downloads (Pure)

Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding

Brackmann, F., Türk, M., Gratzki, N., Rompel, O., Jungbluth, H., Schröder, R. & Trollmann, R., 28 Sept 2017, (E-pub ahead of print) In: Neuromuscular Disorders.

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Open Access

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5 Citations (Scopus)

380 Downloads (Pure)

Heinz Jungbluth

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