Suchergebnisse - "Congenital myopathy"

PubPharm (600)

1

Chemical chaperones in metabolic fitness beyond protein folding

enthalten in: Trends in endocrinology and metabolism: TEM | 2024

von Zito, E. | Lescure, A. | Borgese, N.

2

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations : A case report and literature review

enthalten in: Heliyon | 2024

von Han, J. | Park, J.

3

Improving Diagnostic Precision : Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

enthalten in: Journal of neuromuscular diseases | 2024

von Estévez-Arias, B. | Matalonga, L. | Martorell, L. | +13

4

Rycal S48168 (ARM210) for RYR1-related myopathies : a phase one, open-label, dose-escalation trial

enthalten in: EClinicalMedicine | 2024

von Todd, J. | Lawal, T. | Chrismer, I. | +21

5

Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes

enthalten in: bioRxiv : the preprint server for biology | 2024

von Barraza-Flores, P. | Moghadaszadeh, B. | Lee, W. | +6

6

Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024

von Nóbrega, P. | de Brito de Souza, J. | Maurício, R. | +7

7

Congenital tremor and myopathy secondary to novel MYBPC1 variant

enthalten in: Journal of the neurological sciences | 2024

von Leduc-Pessah, H. | Smith, I. | Kernohan, K. | +11

8

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia

enthalten in: Neuromuscular disorders : NMD | 2024

von Wallgren-Pettersson, C. | Jokela, M. | Lehtokari, V. | +6

9

KLHL40-Related Myopathy : A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report

enthalten in: Genes | 2024

von Buchignani, B. | Marinella, G. | Pasquariello, R. | +6

10

Case report : Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis

enthalten in: Frontiers in neurology | 2024

von Aburahma, S. | Rousan, L. | Shboul, M. | +5

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