Results 221 to 230 of about 1,043,830 (367)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

ADAPT NXT: Fixed Cycles or Every‐Other‐Week IV Efgartigimod in Generalized Myasthenia Gravis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This phase 3b, open‐label, randomized ADAPT NXT study investigated the efficacy, safety, and tolerability of efgartigimod administered in either a fixed cycles dosing regimen (3 cycles of 4 once‐weekly infusions, with 4 weeks between cycles) or a cycle followed by every‐other‐week (Q2W) dosing.
Ali A. Habib   +16 more
wiley   +1 more source

Genome-wide identification and unveiling the role of MAP kinase cascade genes involved in sugarcane response to abiotic stressors. [PDF]

open access: yesBMC Plant Biol
Ali A   +9 more
europepmc   +1 more source

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

open access: yesAnnals 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   +24 more
wiley   +1 more source

SnRK2s: Kinases or Substrates? [PDF]

open access: yesPlants (Basel)
Wei Y, Peng L, Zhou X.
europepmc   +1 more source

Pregnancy Outcomes of Targeted Synthetic Disease‐Modifying Antirheumatic Drugs Among Patients With Autoimmune Diseases: A Scoping Review

open access: yesArthritis Care &Research, EarlyView.
Objective Targeted synthetic disease‐modifying antirheumatic drugs (tsDMARDs) have expanded the management of autoimmune diseases, including rheumatic diseases. As the use of these drugs grows, it is important to understand their effects on pregnancy.
Vienna Cheng   +7 more
wiley   +1 more source

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