Search Results - "Fitzsimons RB"

Adults born preterm have lower peripheral skeletal muscle area and strength.

Authors: Deprez, Alyson El-Jalbout, Ramy Cloutier, Anik et al.

Source: Scientific Reports. 9/13/2024, Vol. 14 Issue 1, p1-10. 10p.

Multimodal Imaging Findings in Retinopathy Associated with Facioscapulohumeral Muscular Dystrophy before and after Treatment with Intravitreal Aflibercept and Laser Photocoagulation.

Authors: Shimizu, Hiroshi Shimizu, Masaki Nakano, Toshiya et al.

Source: Case Reports in Ophthalmology. 2022, Vol. 13 Issue 2, p556-561. 6p.

DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy.

Authors: Belayew, Alexandra Rosa, Alberto L. Zammit, Peter S.

Source: Skeletal Muscle. 8/25/2025, Vol. 15 Issue 1, p1-23. 23p.

Impact of preterm birth on muscle mass and function: a systematic review and meta-analysis.

Authors: Deprez, Alyson Poletto Bonetto, Jéssica H. Ravizzoni Dartora, Daniela et al.

Source: European Journal of Pediatrics. May2024, Vol. 183 Issue 5, p1989-2002. 14p.

R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report.

Authors: Stubberud, Anker O'Connor, Emer Tronvik, Erling et al.

Source: Case Reports in Neurology. 2021, Vol. 13 Issue 1, p123-130. 8p.

Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities.

Authors: Hakami, Mohammed Ageeli Alsaiari, Ahad Amer Mohammad, Taj et al.

Source: PLoS ONE. 7/15/2025, Vol. 20 Issue 7, p1-14. 14p.

Abnormalities in the genioglossus muscle and its neuromuscular synapse in leptin-deficient male mice.

Authors: Medharametla, Srujith Borger, Garrett Gaonkar, Shashir et al.

Source: Skeletal Muscle. 7/5/2025, Vol. 15 Issue 1, p1-21. 21p.

The mysterious link between migraine aura and migraine headache.

Authors: Hougaard, Anders Ayata, Cenk Brennan, K.C. et al.

Source: PLoS Biology. 6/11/2025, Vol. 23 Issue 6, p1-20. 20p.

Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research.

Authors: HANGUL, Ceren BAHAR, Dilek EKINCI, Ozlem et al.

Source: Turkish Journal of Pathology. Jun2025, Vol. 41 Issue 3, p113-122. 10p.

Current status of infarction in the basal ganglia-internal capsule due to mild head injury in children using PRISMA guidelines.

Authors: Wang, Guangming Luan, Yongxin Feng, Lu et al.

Source: Experimental & Therapeutic Medicine. Feb2020, Vol. 19 Issue 2, p1149-1154. 6p.

Research into the physiology of myosins - a personal odyssey.

Authors: Hoh, Joseph Foon Yoong¹ (AUTHOR) joeh@iinet.net.au

Source: European Journal of Translational Myology. 2025, Vol. 35 Issue 2, p1-18. 18p.

Does skeletal muscle have an 'epi'-memory? The role of epigenetics in nutritional programming, metabolic disease, aging and exercise.

Authors: Sharples, Adam P. Stewart, Claire E. Seaborne, Robert A.

Source: Aging Cell. Aug2016, Vol. 15 Issue 4, p603-616. 14p.

Myosin heavy chains in extraocular muscle fibres: Distribution, regulation and function.

Authors: Hoh, Joseph F. Y.¹ (AUTHOR) joeh@iinet.net.au

Source: Acta Physiologica. Feb2021, Vol. 231 Issue 2, p1-37.

Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.

Authors: Liang, Tingyi Zhang, Xiang Xu, Yu et al.

Source: Ophthalmic Genetics. Feb2021, Vol. 42 Issue 1, p79-83. 5p.

Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy.

Authors: Matos, Rita Beato, João Silva, Marta et al.

Source: Ophthalmic Genetics. Sep/Oct2017, Vol. 38 Issue 5, p490-493. 4p.

Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy.

Authors: Sasaki-Honda M Kishimoto T Sakurai H

Source: Journal of human genetics [J Hum Genet] 2025 Sep 16. Date of Electronic Publication: 2025 Sep 16.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

An adult woman with transient headache, neurological deficits, and lymphocytic pleocytosis (HaNDL syndrome) with intracerebral melanosis: case report.

Authors: Ghonimi, Nesma A. M. AbdAlla, Mai A. Fahmi, Rasha M.

Source: Egyptian Journal of Neurology, Psychiatry & Neurosurgery. 7/16/2020, p1-3. 3p.

Ultrasound Measurement of Foetal Kidney Length during Healthy Pregnancy: Relationship with Gestational Age.

Authors: Kiridi, Enefia K. Oriji, Peter C. Briggs, Datonye C. et al.

Source: Ethiopian Journal of Health Sciences. Jan2023, Vol. 33 Issue 1, p97-106. 10p.

Recent progress in histochemistry and cell biology.

Authors: Hübner, Stefan Efthymiadis, Athina

Source: Histochemistry & Cell Biology. Apr2012, Vol. 137 Issue 4, p403-457. 55p.

Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.

Authors: Parissis, Dimitrios Dimitriou, Maria Ioannidis, Panagiotis

Source: Neurological Sciences. Mar2022, Vol. 43 Issue 3, p1617-1626. 10p.

Subjects: Brain diseases, Inborn errors of metabolism, Genetic counseling, Diagnostic errors, Cognition, Genetic variation, Epilepsy, Diagnostic imaging