Search Results - "Harding AE"

Leber Hereditary Optic Neuropathy in the Elderly: A Case Report.

Authors: Li, Haoran Micieli, Jonathan

Source: Case Reports in Ophthalmology. Feb2026, Vol. 17 Issue 1, p305-311. 7p. 2 Illustrations.

Characterizing Friedreich's ataxia cardiomyopathy with serial cardiac magnetic resonance imagings.

Authors: Gunsaulus, Megan E. Krishnamurthy, Rajesh Alvarado, Chance et al.

Source: Annals of Pediatric Cardiology. Jul/Aug2026, Vol. 19 Issue 4, p364-373. 10p.

TRIM33 loss reduces androgen receptor transcriptional output and H2BK120 ubiquitination.

Authors: Eickhoff, Nils Janetzko, Janina Padrão, Nuno et al.

Source: Communications Biology. 7/11/2025, Vol. 8 Issue 1, p1-13. 13p.

Visual Loss from Leber's Optic Neuropathy Presenting in a 76-Year-Old Man with the 14484 Mutations.

Authors: Cyrino, Laura Goldfarb Saldaña Lagos, Bianca Jimena Varalta Martins, Pedro Henrique et al.

Source: Neuro-Ophthalmology. Apr2026, Vol. 50 Issue 2, p159-166. 8p.

Unveiling the effect of curcumin on ion channels of SBMA motoneuron-derived cells and human IPSC-derived neurons: initial electrophysiological findings.

Authors: Plakhova, Vera Battistella, Ingrid Martínez-Rojas, Vladimir A. et al.

Source: European Biophysics Journal. Apr2026, Vol. 55 Issue 2, p175-186. 12p.

Peripheral myelin protein 22 p.Tll8M point mutation in a family with no clinical phenotypes of Charcot-Marie-Tooth disease.

Authors: Sreedevi, N. Swapna, N. Maruthy, Santosh et al.

Source: Journal of Neurosciences in Rural Practice. Jan-Mar2026, Vol. 17 Issue 1, p1-3. 3p.

An autopsy case of coexisting spinal and bulbar muscular atrophy and multiple system atrophy.

Authors: Miura, Motoki Shintaku, Hiroshi Numasawa, Yoshiyuki et al.

Source: Neuropathology. Aug2025, Vol. 45 Issue 4, p1-6. 6p.

Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis.

Authors: Marabita, Manuela Marchioretti, Caterina Aravamudhan, Aishwarya et al.

Source: Acta Neuropathologica Communications. 7/14/2025, Vol. 13 Issue 1, p1-17. 17p.

The m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study.

Authors: Zhang, Ning Zhang, Zhikang Zhang, Ying et al.

Source: Orphanet Journal of Rare Diseases. 7/1/2025, Vol. 20 Issue 1, p1-5. 5p.

Safety Monitoring of Omaveloxolone in Friedreich Ataxia: Results from One Year of Clinical Treatment.

Authors: Gunther, Katherine Profeta, Victoria Keita, Medina et al.

Source: Neurology & Therapy. Jun2025, Vol. 14 Issue 3, p1105-1114. 10p.

Mitochondrial disease management through phytochemical interventions.

Authors: Ramya RP Megha KB Reshma S et al.

Source: Molecular and cellular biochemistry [Mol Cell Biochem] 2025 Dec; Vol. 480 (12), pp. 5911-5940. Date of Electronic Publication: 2025 Aug 03.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 0364456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4919 (Electronic) Linking ISSN: 03008177 NLM ISO Abbreviation: Mol Cell Biochem Subsets: MEDLINE

Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models.

Authors: Tang Y Shan D Wang H et al.

Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2026 May 05; Vol. 14 (1). Date of Electronic Publication: 2026 May 05.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

Systematic review of Leber's hereditary optic neuropathy – Clinical diagnosis, genetics overview and current concepts of treatment.

Authors: Ambika, Selvakumar Srilekha, Sundaramurthy

Source: Indian Journal of Ophthalmology. Aug2026, Vol. 74 Issue 8, p1151-1161. 11p.

Small-scale protocols to characterize mitochondrial Complex V activity and assembly in peripheral blood mononuclear cells.

Authors: Chau, Kai-Yin Taanman, Jan-Willem Schapira, Anthony H.V.

Source: PLoS ONE. 5/8/2025, Vol. 20 Issue 5, p1-13. 13p.

Clinical features and genotype in COQ4 associated hereditary spastic paraplegia: a case report and a literature reanalysis.

Authors: Yu, Zhe Wang, Rongfei Xiang, Feng et al.

Source: Neurological Sciences. May2025, Vol. 46 Issue 5, p2223-2228. 6p.

Subjects: Familial spastic paraplegia, Cerebellar ataxia, Infant diseases, Muscle strength, Symptoms

Kearns–Sayre syndrome presenting with progressive external ophthalmoplegia and third-degree atrioventricular block diagnostic challenge in resource-limited settings: a case report.

Authors: Azibte, Gebeyehu Tessema Ayalew, Zekarias Seifu Molla, Bereket Abraha et al.

Source: Journal of Medical Case Reports. 3/20/2025, Vol. 19 Issue 1, p1-4. 4p.

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.

Authors: Liu, Zhimei Pan, Kexin Wang, Mingzhao et al.

Source: Annals of Clinical & Translational Neurology. Mar2025, Vol. 12 Issue 3, p586-601. 16p.

Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report.

Authors: Kadiša, Anda Vereskuns, Ritvars Tarasovs, Mihails et al.

Source: Journal of Medical Case Reports. 11/6/2025, Vol. 19 Issue 1, p1-9. 9p.

Age-Associated Differences in Optic Disc Findings of Leber's Hereditary Optic Neuropathy.

Authors: Takai, Yasuyuki Yamagami, Akiko Iwasa, Mayumi et al.

Source: Neuro-Ophthalmology. Oct2025, Vol. 49 Issue 5, p359-365. 7p.

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population.

Authors: Assaedi, Ekhlas Ashtiani, Setareh Estiar, Mehrdad A. et al.

Source: Movement Disorders Clinical Practice. Sep2025, Vol. 12 Issue 9, p1346-1356. 11p.