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Year Number of Results
2016 5
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42 results

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Page 1
The relation of temporomandibular disorders and dental occlusion: a narrative review.
Kalladka M, Young A, Thomas D, Heir GM, Quek SYP, Khan J. Kalladka M, et al. Quintessence Int. 2022 Apr 5;53(5):450-459. doi: 10.3290/j.qi.b2793201. Quintessence Int. 2022. PMID: 35274511 Review.
OBJECTIVE: The term temporomandibular disorders (TMDs) encompasses a variety of disorders of the temporomandibular joint (TMJD) and the associated musculature (MMD). Occlusion and its role in the genesis of TMDs is one of the most controversial topics in this arena. ...
OBJECTIVE: The term temporomandibular disorders (TMDs) encompasses a variety of disorders of the temporomandibular joint (TMJD) and the asso …
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlan …
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LG …
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (core …
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-m …
Core myopathies - a short review.
Topaloglu H. Topaloglu H. Acta Myol. 2020 Dec 1;39(4):266-273. doi: 10.36185/2532-1900-029. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458581 Free PMC article. Review.
Because of the clinical, pathological, and molecular overlaps, central core disease and multiminicore disease will be discussed together....
Because of the clinical, pathological, and molecular overlaps, central core disease and multiminicore disease will be discusse …
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Ogasawara M, Nishino I. Ogasawara M, et al. Neuromuscul Disord. 2021 Oct;31(10):968-977. doi: 10.1016/j.nmd.2021.08.015. Epub 2021 Sep 17. Neuromuscul Disord. 2021. PMID: 34627702 Review.
Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be pathologically divided into central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. Although RYR1-related myopathy is the most …
Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be pathologically divided into cent …
Myofascial pain in temporomandibular disorders: Updates on etiopathogenesis and management.
Kalladka M, Young A, Khan J. Kalladka M, et al. J Bodyw Mov Ther. 2021 Oct;28:104-113. doi: 10.1016/j.jbmt.2021.07.015. Epub 2021 Aug 8. J Bodyw Mov Ther. 2021. PMID: 34776126 Review.
OBJECTIVES: Temporomandibular disorders (TMDs) are an umbrella term encompassing disorders of both the temporomandibular joint (TMJD) and masticatory musculature (MMD). The objective of this review is to provide an overview of the etiopathogenesis, clinical features and di …
OBJECTIVES: Temporomandibular disorders (TMDs) are an umbrella term encompassing disorders of both the temporomandibular joint (TMJD) and ma …
Therapeutic Aspects in Congenital Myopathies.
Jungbluth H, Muntoni F. Jungbluth H, et al. Semin Pediatr Neurol. 2019 Apr;29:71-82. doi: 10.1016/j.spen.2019.01.004. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060727 Review.
While the originally reported "classical" entities within this group - Central Core Disease, Multiminicore Disease, Nemaline Myopathy, and Centronuclear Myopathy - were defined by the predominant finding on muscle biopsy, "novel" forms with multiple, subtle, and unu …
While the originally reported "classical" entities within this group - Central Core Disease, Multiminicore Disease, Nemaline M …
Significance of Asymptomatic Hyper Creatine-Kinase Emia.
Finsterer J, Scorza FA, Scorza CA. Finsterer J, et al. J Clin Neuromuscul Dis. 2019 Dec;21(2):90-102. doi: 10.1097/CND.0000000000000269. J Clin Neuromuscul Dis. 2019. PMID: 31743252
AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, malignant hyperthermia susceptibility, …
AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dy …
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Lawal TA, Todd JJ, Meilleur KG. Lawal TA, et al. Neurotherapeutics. 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1. Neurotherapeutics. 2018. PMID: 30406384 Free PMC article. Review.
Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. ...
Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core-rod myopathy, centronuclear my …
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL. Estañ MC, et al. Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9. Nat Commun. 2019. PMID: 30770808 Free PMC article.
We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 dis …
We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice …
42 results