Results 201 to 210 of about 2,382,016 (345)

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Patients' Global Impression of Change (PGIC) Score Compared to Monthly Migraine Days to Evaluate Treatment Persistence With Anti‐CGRP Monoclonal Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study assessed whether continued treatment with anti‐CGRP monoclonal antibodies (mAbs) is driven more by reductions in monthly migraine days (MMDs) or patients' global impression of change (PGIC), a patient‐reported outcome. Among 169 patients treated with anti‐CGRP mAbs, 21.3% discontinued due to ineffectiveness. PGIC responders (≥ 5) at
Marina Romozzi, Catello Vollono, Paolo Calabresi, Francesco De Cesaris, Luigi Francesco Iannone   +4 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

The variation rule of TBM tunneling parameters in deep composite strata and the recognition method of boreability grade. [PDF]

Sci Rep
Wang H, Cui G, Shi Z, Zhang L, Gao C, Ding Z.   +5 more
europepmc   +1 more source

Serotonergic and Dopaminergic Function in Neuropsychiatrically Asymptomatic People With HIV on Antiretroviral Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with HIV (PWH) on antiretroviral therapy (ART) still experience neurocognitive dysfunction and accelerated brain volume loss. To assess whether the serotonergic and dopaminergic systems are affected, we used [11C]DASB positron emission tomography (PET) to assess presynaptic serotonergic function and [18F]FDOPA PET to measure ...
Chuen‐Yen Lau, Anna Lyndaker, Swati Shah, Paul Wakim, Amelia Mitchell, Cynthia Monroe, Alan Kim, Tracy L. Cropper, Govind Nair, Joseph Snow, Bryan R. Smith, Avindra Nath, Dima A. Hammoud   +12 more
wiley   +1 more source

The symbolic intersecting ableism and racism scale. [PDF]

Front Rehabil Sci
Friedman C.
europepmc   +1 more source

Pollution reduces native diversity and increases invader dominance in marine hard‐substrate communities

, 2007
R. Piola, E. Johnston
semanticscholar   +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

Moisture-Driven Morphology Changes in the Thermal and Dielectric Properties of TPU-Based Syntactic Foams. [PDF]

Polymers (Basel)
Pushparaj Subramaniyan S, Das PP, Raihan R, Prabhakar P.   +3 more
europepmc   +1 more source

An Analysis for IDH‐Mutant Grade 4 Astrocytoma Based on WHO CNS 5: Implication of Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose There is ongoing debate regarding the therapeutic approach and prognosis for IDH‐mutant grade 4 astrocytoma, a newly defined subtype of diffuse glioma in the 2021 WHO classification system for central nervous system tumors (WHO CNS 5). The aim of this study was to explore the clinical outcome and prognosticators for newly diagnosed IDH‐
Xianxin Qiu, Liping Liang, Lingchao Chen, Pengjie Hong, Wanzun Lin, Jiabing Liu, Zhirui Zhou, Wenjia Zhu, Tianqi Wu, Mingyuan Pan, Yihua Zhong, Jing Gao, Zhiyong Qin, Yang Wang   +13 more
wiley   +1 more source