Results 351 to 360 of about 4,748,303 (367)

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Metrological evaluation of DNA extraction method effects on the bacterial microbiome and resistome in sputum. [PDF]

mSystems
Benčič A, Toplak N, Koren S, Bogožalec Košir A, Milavec M, Tomič V, Lužnik D, Dreo T.   +7 more
europepmc   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Comparison evaluation of bacterial DNA extraction methods for improved molecular diagnostic accuracy of sepsis-causing pathogens in clinical whole blood samples. [PDF]

Sci Rep
Na B, Park J, Park S, Park E, Jang J, Kim YH, Lee J, Chung HS.   +7 more
europepmc   +1 more source

A low-cost and versatile paramagnetic bead DNA extraction method for Mycobacterium ulcerans environmental surveillance. [PDF]

Appl Environ Microbiol
Lee JYH, Porter JL, Hobbs EC, Whiteley P, Buultjens AH, Stinear TP.   +5 more
europepmc   +1 more source

Microbial DNA extraction method for avian feces and preen oil from diverse species. [PDF]

Ecol Evol
Russell AC, Kenna MA, Huynh AV, Rice AM.
europepmc   +1 more source

High-throughput DNA extraction strategy for fecal microbiome studies. [PDF]

Microbiol Spectr
Isokääntä H, Tomnikov N, Vanhatalo S, Munukka E, Huovinen P, Hakanen AJ, Kallonen T.   +6 more
europepmc   +1 more source

A rapid and inexpensive 96-well DNA-extraction method from blood using silicon dioxide powder (Glassmilk). [PDF]

Biol Methods Protoc
Vásquez Bonilla MM, Guerrero-Freire MS, Ledesma Y, Laglaguano JC, de Waard JH.   +4 more
europepmc   +1 more source