Results 161 to 170 of about 47,990 (266)

Clinical Development of Therapies for Charcot–Marie–Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Charcot–Marie–Tooth disease (CMT) encompasses a heterogeneous group of inherited peripheral neuropathies. Despite being the most common genetic neurological condition, individual CMT subtypes are rare, presenting unique challenges for therapeutic development.
Charles K. Abrams, Sue Bruhn, Joshua Burns, Rebekah Fleming, Katherine Forsey, Vera Fridman, David N. Herrmann, Brian Lin, Susan McCune, Allison Moore, Susan Ruediger, Michael Shy, Shannon Strom, ToPIC:CMT Steering Committee, Shannon Strom, Peggy Allred, Dottie M. Caplan, Samuel Collins, David Goldstein, Christina Greeley, Benit S. Maru, Thomas Holm Pedersen, Terry Pirovolakis, Rachel Salzman, Iris Schultz   +24 more
wiley   +1 more source

MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular Tachycardia. [PDF]

Mol Genet Genomic Med
Kalayinia S, Masoumi T, Taherkhani A, Mahdieh N, Khorgami M, Maleki M.   +5 more
europepmc   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

Cryptococcal meningitis in an immunocompetent host: acute bilateral sensorineural hearing loss with normal intracranial pressure. [PDF]

BMC Neurol
Zhang L, Yang H, Zheng Z, Huang H, Li B.
europepmc   +1 more source

The tympanic covering layer contributes to basilar membrane elasticity potentially influencing human frequency resolution and speech perception

Journal of Anatomy, Volume 249, Issue 3, Page 528-543, September 2026.
In this study we show for the first time that the human basilar membrane contains elastin produced by the so‐called tympanic covering layer. It is believed to play an important functional role in human cochlear tuning, particularly low frequencies linked to our remarkable speech and music perception.
Wei Liu, Claudia Steinacher, Alexander Glueckert, Rudolf Glueckert, Hao Li, Karin Staxäng, Anneliese Schrott‐Fischer, Hanif M. Ladak, Sumit Agrawal, Helge Rask‐Andersen   +9 more
wiley   +1 more source

Unexpected Spontaneous Recovery From Profound Sensorineural Hearing Loss Induced by Radiation in a Patient With a Skull Base Tumor. [PDF]

Cureus
Khoury M, Egra-Dagan D, Salman S, Khnifies R.   +3 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Prognostic factors for pediatric sudden sensorineural hearing loss: a systematic review and meta-analysis. [PDF]

Front Pediatr
Wu Z, Zhang P, Sun J, Diao M.
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1856-1861, August 2026.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Efficacy of sound therapy on tinnitus in idiopathic sudden sensorineural hearing loss: a systematic review and meta-analysis protocol. [PDF]

BMJ Open
Ren Q, Luo H, Li J, Yuan H, Hu Y, Tang H, Tian L.   +6 more
europepmc   +1 more source