Results 121 to 130 of about 752 (151)

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

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

Newborn screening programs for spinal muscular atrophy worldwide in 2023. [PDF]

J Neuromuscul Dis
Vrščaj E, Dangouloff T, Osredkar D, Servais L, SMA NBS World Study Group.   +4 more
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

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

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

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

Evolution of antimicrobial resistance and serotype distribution of Streptococcus pneumoniae isolated from children with invasive and noninvasive pneumococcal diseases in Algeria from 2005 to 2012. [PDF]

New Microbes New Infect, 2015
Ramdani-Bouguessa N, Ziane H, Bekhoucha S, Guechi Z, Azzam A, Touati D, Naim M, Azrou S, Hamidi M, Mertani A, Laraba A, Annane T, Kermani S, Tazir M.   +13 more
europepmc   +1 more source

Notes on the Recent History of Neuroscience in Africa. [PDF]

Front Neuroanat, 2017
Russell VA.
europepmc   +1 more source

The extremely broad odorant response profile of mouse olfactory sensory neurons expressing the odorant receptor MOR256-17 includes trace amine-associated receptor ligands. [PDF]

Eur J Neurosci, 2016
Tazir B, Khan M, Mombaerts P, Grosmaitre X.   +3 more
europepmc   +1 more source