Research output per year
Research output per year
Search results
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2022
Cartographie des données probantes actuelles sur la prise en charge anesthésique des patients adultes atteints de maladies neuromusculaires : une étude de portée
Translated title of the contribution :Mapping the current evidence on the anesthetic management of adult patients with neuromuscular disorders—a scoping review Research output: Contribution to journal › Review article › peer-review
Open Access4 Citations (Scopus) -
Early clinical and pre-clinical therapy development in Nemaline myopathy
Fisher, G., Mackels, L., Markati, T., Sarkozy, A., Ochala, J., Jungbluth, H., Ramdas, S. & Servais, L., 2022, In: Expert Opinion on Therapeutic Targets. 26, 10, p. 853-867 15 p.Research output: Contribution to journal › Review article › peer-review
Open Access9 Citations (Scopus) -
Muscle cramps and contractures: causes and treatment
Dijkstra, J. N., Boon, E., Kruijt, N., Brusse, E., Ramdas, S., Jungbluth, H., Van Engelen, B. G. M., Walters, J. & Voermans, N. C., 15 Dec 2022, In: Practical neurology. 23, 1, p. 23-34 12 p.Research output: Contribution to journal › Review article › peer-review
5 Citations (Scopus) -
New treatments in spinal muscular atrophy
Gowda, V. L., Fernandez-Garcia, M. A., Jungbluth, H. & Wraige, E., 2022, (Accepted/In press) In: Archives of Disease in Childhood. archdischild-2021-323605.Research output: Contribution to journal › Review article › peer-review
16 Citations (Scopus) -
RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction
Kruijt, N., van den Bersselaar, L., Snoeck, M., Kramers, K., Riazi, S., Bongers, C., Treves, S., Jungbluth, H. & Voermans, N., Jan 2022, In: Current Pharmaceutical Design. 28, 1, p. 2-14 13 p.Research output: Contribution to journal › Review article › peer-review
13 Citations (Scopus) -
2021
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., 2021, (Accepted/In press) In: Autophagy.Research output: Contribution to journal › Review article › peer-review
Open Access54 Citations (Scopus) -
2020
Anaesthesia and neuromuscular disorders: What a neurologist needs to know
Van Den Bersselaar, L. R., Snoeck, M. M. J., Gubbels, M., Riazi, S., Kamsteeg, E. J., Jungbluth, H. & Voermans, N. C., 2020, (Accepted/In press) In: PRACTICAL NEUROLOGY. 002633.Research output: Contribution to journal › Review article › peer-review
15 Citations (Scopus) -
Genetic neuropathies presenting with CIDP-like features in childhood
Fernandez-Garcia, M. A., Stettner, G. M., Kinali, M., Clarke, A., Fallon, P., Knirsch, U., Wraige, E. & Jungbluth, H., 2020, (Accepted/In press) In: Neuromuscular Disorders.Research output: Contribution to journal › Review article › peer-review
8 Citations (Scopus) -
HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review
Kruijt, N., van den Bersselaar, L. R., Wijma, J., Verbeeck, W., Coenen, M. J. H., Neville, J., Snoeck, M., Kamsteeg, E. J., Jungbluth, H., Kramers, C. & Voermans, N. C., Dec 2020, In: Neuromuscular Disorders. 30, 12, p. 949-958 10 p.Research output: Contribution to journal › Review article › peer-review
Open Access9 Citations (Scopus) -
2019
MYO-MRI diagnostic protocols in genetic myopathies
MYO-MRI Working Group, 1 Nov 2019, In: Neuromuscular Disorders. 29, 11, p. 827-841 15 p.Research output: Contribution to journal › Review article › peer-review
54 Citations (Scopus) -
2018
Congenital myopathies: Disorders of excitation-contraction coupling and muscle contraction
Jungbluth, H., Treves, S., Zorzato, F., Sarkozy, A., Ochala, J., Sewry, C., Phadke, R., Gautel, M. & Muntoni, F., 1 Mar 2018, In: Nature Reviews Neurology. 14, 3, p. 151-167 17 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile197 Citations (Scopus)551 Downloads (Pure) -
2017
Ca(2+) handling abnormalities in early-onset muscle diseases: novel concepts and perspectives
Treves, S., Jungbluth, H., Voermans, N., Muntoni, F. & Zorzato, F., Apr 2017, In: Seminars in Cell and Developmental Biology. 64, p. 201-212Research output: Contribution to journal › Review article › peer-review
Open AccessFile19 Citations (Scopus)137 Downloads (Pure) -
2016
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?
Scalco, R. S., Snoeck, M., Quinlivan, R., Treves, S., Laforét, P., Jungbluth, H. & Voermans, N. C., 7 Sept 2016, In: BMJ open sport & exercise medicine. 2, 1, p. e000151Research output: Contribution to journal › Review article › peer-review
Open AccessFile77 Citations (Scopus)301 Downloads (Pure)