Results 131 to 140 of about 2,395 (162)

A novel <i>SIGMAR1</i> missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China. [PDF]

Front Genet
Yu Q, Mohammed Nazar RB, Chen S, Qian Q, Wang J, Chen X.   +5 more
europepmc   +1 more source

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. [PDF]

Am J Hum Genet
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A, SYNAPS Study Group, Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H.   +66 more
europepmc   +1 more source

Case Report: autosomal dominant distal motor neuropathy as a new phenotype of <i>KIF21A</i>-related disorders. [PDF]

Front Genet
Subbotin D, Tatarskiy E, Kuchina A, Cherevatova T, Krylova T, Ryzhkova O, Skoblov M, Murtazina A.   +7 more
europepmc   +1 more source

Relationship between endocrine disruptors and obesity with a focus on bisphenol A: a narrative review. [PDF]

Bioimpacts, 2021
Boudalia S, Bousbia A, Boumaaza B, Oudir M, Canivenc Lavier MC.   +4 more
europepmc   +1 more source

Finding the real COVID-19 case-fatality rates for SAARC countries

, 2020
Tazir Shah MR, Ahammed T, Anjum A, Chowdhury AA, Suchana AJ.   +4 more
europepmc   +1 more source

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). [PDF]

Ann Neurol, 2019
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.   +41 more
europepmc   +1 more source

Serotypes and Antibiotic Susceptibility of Streptococcus pneumoniae Isolates from Invasive Pneumococcal Disease and Asymptomatic Carriage in a Pre-vaccination Period, in Algeria. [PDF]

Front Microbiol, 2016
Ziane H, Manageiro V, Ferreira E, Moura IB, Bektache S, Tazir M, Caniça M.   +6 more
europepmc   +1 more source

Olfactory signaling via trace amine-associated receptors. [PDF]

Cell Tissue Res, 2021
Dewan A.
europepmc   +1 more source

Functional and Molecular Characterization of Mechanoinsensitive "Silent" Nociceptors. [PDF]

Cell Rep, 2017
Prato V, Taberner FJ, Hockley JRF, Callejo G, Arcourt A, Tazir B, Hammer L, Schad P, Heppenstall PA, Smith ES, Lechner SG.   +10 more
europepmc   +1 more source

Modeling of Charcot-Marie-Tooth disease in zebrafish. [PDF]

Front Mol Neurosci
Korzeniowska Née Wiweger M, Chabros K, Rzepnikowska W, Kochański A, Kabzińska D.   +4 more
europepmc   +1 more source