Results 201 to 210 of about 256,729 (300)

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. [PDF]

Brain
Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network, McCray BA.   +20 more
europepmc   +1 more source

Use of the Ion Robot in the Diagnosis of Pulmonary Nodules: Fine Needle Aspiration Versus Cryobiopsy

Diagnostic Cytopathology, EarlyView.
ABSTRACT Background Robotic‐assisted bronchoscopy platforms provide an innovative approach to the sampling of pulmonary nodules. As compared to other technologies, fiber‐optic shape‐sensing instrumentation allows for a more precise, accurate location and sampling of the target lesion with fewer complications.
Suzanne M. Selvaggi
wiley   +1 more source

The impact of respiratory muscle training on respiratory function in patients with neuromuscular disease: a systematic review and meta-analysis of randomized controlled trials. [PDF]

BMC Sports Sci Med Rehabil
Ortiz-Garcia NY, Rueda-Capristran DE, Kumar A, Herrera DA, Alonso-Ramírez AC, Othón-Martínez D, Reyes-Rivera J, Mejia FM, Martinez-Illan JD, Durazo CIM, Perez-Moreno EJ, Cruz CS, Martinez EC.   +12 more
europepmc   +1 more source

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

Use of assistive technology to assess distal motor function in subjects with neuromuscular disease. [PDF]

PLOS Digit Health
Vincent-Genod D, Roche S, Barrière A, de Lattre C, Tinat M, Venema E, Lagrange E, Gomes Lisboa de Souza A, Thomann G, Coton J, Gautheron V, Féasson L, Rippert P, Vuillerot C.   +13 more
europepmc   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Undetected Neuromuscular Disease in Patients after Heart Transplantation. [PDF]

Int J Mol Sci
Bekele BM, Gazzerro E, Schoenrath F, Falk V, Rost S, Hoerning S, Jelting Y, Zaum AK, Spuler S, Knierim J.   +9 more
europepmc   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Hypercapnia is not excluded by normoxia in neuromuscular disease patients: implications for oximetry. [PDF]

ERJ Open Res
Gray E, Menadue C, Piper A, Wong K, Kiernan M, Yee B.   +5 more
europepmc   +1 more source

Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study

Epilepsia Open, EarlyView.
Abstract This multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2‐q13.1 duplication or deletion syndromes (15q‐DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5
Emanuele Cerulli Irelli, Adolfo Mazzeo, Marco Perulli, Georgia Ramantani, Domenica Battaglia, Irene Bagnasco, Erica Cognolato, Pasquale Striano, Susanna Negrin, Alberto Danieli, Paolo Bonanni, Francesca F. Operto, Carlo Di Bonaventura, Antonietta Coppola, Alessandro Orsini   +14 more
wiley   +1 more source