Results 131 to 140 of about 220,670 (147)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Cases of endophthalmitis caused by Candida albicans and Candida dubliniensis identified via internal transcribed spacer deep sequencing. [PDF]

BMC Ophthalmol
Asao K, Hashida N, Maruyama K, Motooka D, Nakamura S, Nishida K.   +5 more
europepmc   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Xpert MTB/RIF Ultra-resistant and MTBDR<i>plus-</i>susceptible rifampicin results in people with tuberculosis: utility of FluoroType MTBDR and deep sequencing. [PDF]

Antimicrob Agents Chemother
Ghebrekristos Y, Ahmed A, Beylis N, Singh S, Opperman C, Naufal F, Folkerts M, Engelthaler D, Auma E, Venter R, Booley G, Metcalfe J, Warren R, Theron G.   +13 more
europepmc   +1 more source

Annual 12‐Week Dosing Gap of Natalizumab: Clinical Efficacy, Blood Biomarkers, and CSF Cell Composition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich, Tilman Schneider‐Hohendorf, Eric Baetscher, Evan L. Riddle, Marie Deffner, Emily Katsnelson, Janine Ferrant‐Orgettas, Julie Czerkowicz, John Anderson, Susan E. Goelz, Nicholas Schwab   +10 more
wiley   +1 more source

DORQ-seq: high-throughput quantification of femtomol tRNA pools by combination of cDNA hybridization and Deep sequencing. [PDF]

Nucleic Acids Res
Kristen M, Lander M, Kilz LM, Gleue L, Jörg M, Bregeon D, Hamdane D, Marchand V, Motorin Y, Friedland K, Helm M.   +10 more
europepmc   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel. [PDF]

Genes (Basel)
Shalom S, Hanany M, Eilat A, Chowers I, Ben-Yosef T, Khateb S, Banin E, Sharon D.   +7 more
europepmc   +1 more source

UnderstandingPlasmodium vivaxrecurrent infections using an amplicon deep sequencing assay, PvAmpSeq, identity-by-descent and model-based classification

Rosado J, Han J, Obadia T, Munro J, Traore Z, Schoffer K, Brewster J, Bourke C, Vinetz JM, White M, Bahlo M, Gamboa D, Mueller I, Ruybal-Pesántez S.   +13 more
europepmc   +1 more source

Correction to 'DORQ-seq: high-throughput quantification of femtomol tRNA pools by combination of cDNA hybridization and Deep sequencing'. [PDF]

Nucleic Acids Res
europepmc   +1 more source