Results 261 to 270 of about 2,585,016 (323)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Response to Letter to the Editor. [PDF]

Thorac Cancer
Busetto A, Cannone G, Lione L, Bonis A, Verzeletti V, Battistel M, Rebusso A, Nicotra S, Dell'Amore A, Rea F.   +9 more
europepmc   +1 more source

Dealing with the directive to restrict access to lethal means: parents' perspectives. [PDF]

BJPsych Open
Cohen Ben Simon O, Gvion Y, Daches S.
europepmc   +1 more source

Translating a Preclinically Tested 15 Hz rTMS Protocol to Humans With Chronic Spinal Cord Injury: A Safety and Feasibility Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Repetitive transcranial magnetic stimulation (rTMS) is a non‐invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high‐frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth ...
Nabila Brihmat, Mehmed B. Bayram, Morgan Paine, Janelle Carnahan, Jian Zhong, Xiaofei Guan, Guang H. Yue, Soha Saleh, Gail F. Forrest   +8 more
wiley   +1 more source

Editorial: Sustainable synthesis for obtaining elements of natural origin with antimicrobial properties. [PDF]

Front Chem
Vega-Baudrit J, Corvis Y, Vázquez P, Arreche RA.   +3 more
europepmc   +1 more source

Utilisation of routine health information system and associated factors among health workers in public health institutions of Gofa zone, South Ethiopia regional state:a mixed-methods study. [PDF]

BMJ Health Care Inform
Doka BK, Worku AG, Negeri KG, Kassa DH.
europepmc   +1 more source

Endovascular management of a right external iliac artery-ureteral fistula after multimodal therapy for cervical cancer and prolonged metallic ureteral double-J stent. [PDF]

Urol Case Rep
Okazaki G, Okada T, Tsukii Y, Noda Y, Ohta Y, Kurokawa S, Yasui T.   +6 more
europepmc   +1 more source

Commentary on “The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type”

Annals of Clinical and Translational Neurology, EarlyView.
Majid Khalilizad, Ebrahim Hejazian, Mohammad Barary, Mostafa Javanian, Soheil Ebrahimpour   +4 more
wiley   +1 more source