Results 231 to 240 of about 49,600 (309)

Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes

open access: yesJournal of the Peripheral Nervous System, Volume 30, Issue 3, September 2025.
ABSTRACT Background and Aims Charcot–Marie–Tooth disease (CMT) is a rare hereditary neuropathy that affects peripheral nerves in the upper and lower limbs. To distinguish between the different forms of the disease, electrophysiological criteria are essential.
Endrit Shumeri   +10 more
wiley   +1 more source

Cell death in the Schwann cell lineage and its regulation by neuregulin.

open access: green, 1996
Daniel E. Syroid   +7 more
openalex   +1 more source

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot–Marie–Tooth Disease

open access: yesJournal of the Peripheral Nervous System, Volume 30, Issue 3, September 2025.
ABSTRACT Background and Aims Mitochondrial trifunctional protein deficiency (MTPD) is an inherited disorder of fatty acid β‐oxidation caused by mutations in HADHA or HADHB genes. It typically presents with cardiomyopathy or hepatic failure in early childhood; however, it may rarely present in adulthood with the neuromyopathic form.
Farkhanda Qaiser   +6 more
wiley   +1 more source

iPSC-based merlin-deficient Schwann cell-like spheroids as an <i>in vitro</i> system for studying <i>NF2</i> pathogenesis. [PDF]

open access: yesGenes Dis
Catasús N   +14 more
europepmc   +1 more source

Pharmacological Targeting of Hyperpolarization‐Activated Cyclic Nucleotide‐Gated Cation Channels on Bladder Afferent Sensory Transmission

open access: yesLUTS: Lower Urinary Tract Symptoms, Volume 17, Issue 5, September 2025.
ABSTRACT Objective This study aimed to investigate the potential role of cesium chloride (CsCl), ivabradine (IVA), and isoproterenol (ISO) on the sensory transmission of bladder afferents to graded urinary bladder distension (UBD). We specifically selected these drugs to target the hyperpolarization‐activated cyclic nucleotide‐gated (HCN) cation ...
Eric Woon   +5 more
wiley   +1 more source

Neuroimmune pathophysiology of long COVID

open access: yesPsychiatry and Clinical Neurosciences, Volume 79, Issue 9, Page 514-530, September 2025.
Although COVID‐19 was originally considered a respiratory illness, it is now well established that SARS‐CoV‐2 infection can have far‐reaching impacts on the nervous system. Neurological symptoms such as chemosensory dysfunction are frequently observed during acute infection and approximately 10% of COVID‐19 cases will go on to develop new or persistent
Janna K. Moen   +2 more
wiley   +1 more source

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