Results 191 to 200 of about 31,520 (324)

Pharmacological manipulation of the immediate effects of spinal trauma in neonatal rats reveals a crucial role for TRPV4 receptors

The Journal of Physiology, EarlyView.
Abstract figure legend A, schematic illustration of the ventral aspect of an ex vivo preparation of the entire CNS from a neonatal rat subjected to a calibrated thoracic impact. The trauma induced a large depolarising injury potential (DIP, black trace) recorded from the L5 ventral root (VRrL5), which was markedly reduced by transient receptor ...
Atiyeh Mohammadshirazi, Caterina Ciani, Francesca Emma Mongelli, Rashid Giniatullin, Carmen Falcone, Giuliano Taccola   +5 more
wiley   +1 more source

Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers. [PDF]

J Neurol
Mroczek M, Preusse C, Hentschel A, Chrościńska-Krawczyk M, Bielak M, Sobolewska A, Della Marina A, Hila A, Iyadurai S, Kraft F, Chetty VK, Muhmann D, Ruck T, Goebel HH, Schara-Schmidt U, Dobelmann V, Thakur BK, Stenzel W, Roos A.   +18 more
europepmc   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Zhao L, Deng F, Cai B.
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Oral Baclofen Toxicity in a Pediatric Patient Managed Without Invasive Intervention: A Case Report and Literature Review. [PDF]

Cureus
Alqahtani B, Nizamuddin MN, Rayees S.
europepmc   +1 more source

Atypical Guillain‐Barré Syndrome Preceding Icteric Hepatitis A: A Diagnostic Challenge—A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Guillain–Barré syndrome (GBS) is an acute immune‐mediated neuropathy typically triggered by infections. Rarely, it may precede acute hepatitis A (HAV), creating diagnostic challenges. We report a 32‐year‐old male presenting with ascending weakness and tingling in limbs without initial hepatic symptoms.
Asem Afana, Ahmed H. Sharaf, Jana Omar, Ahmad Elkhazin, Hossam Salameh   +4 more
wiley   +1 more source

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities. [PDF]

Cureus
Lee G, Villar NM, Vo J, Kang L.
europepmc   +1 more source

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.
ABSTRACT Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function. While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlying skeletal muscle weakness and fatigability are poorly
Catalina Matias, Paige L. Snider, Elizabeth A. Sierra Potchanant, Joshua R. Huot, Rahul Raghav, Michael T. Chin, Simon J. Conway, Jeffrey J. Brault   +7 more
wiley   +1 more source

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy. [PDF]

BMC Neurol
Pera MC, Pisanò G, Gnazzo M, Moretti S, Gambini L, Percesepe A, Esposito S, Perrone S.   +7 more
europepmc   +1 more source