Results 141 to 150 of about 1,459,190 (233)

Phenotypic variability related to dominant UCHL1 mutations:about three families with optic atrophy and ataxia

Introduction: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4].
Koenig, M., Hersent, C., Koenig, Michel, Benkirane, M., Nadjar, Y., Hao, Q.; id_orcid, Meunier, I., Hao, Q., Ramond, F., Taieb, G., Vignal, C., Marelli, C., Frost, S., Leboucq, N., Blanchet, C., Bocquet, B.   +15 more
core   +1 more source

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants

Stem Cell Research
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia ...
Michele Bertacchi, Romain Desprat, Gaetan Lesca, Chloé Quelin, Marjolaine Willems, Catherine Vincent-Delorme, Laurence Faivre, Christian Jorgensen, Michèle Studer   +8 more
doaj   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2166-2171, October 2026.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Targeting DRP1 with Mdivi-1 to correct mitochondrial abnormalities in ADOA+ syndrome

JCI Insight
Autosomal dominant optic atrophy plus (ADOA+) is characterized by primary optic nerve atrophy accompanied by a spectrum of degenerative neurological symptoms.
Yan Lin, Dongdong Wang, Busu Li, Jiayin Wang, Ling Xu, Xiaohan Sun, Kunqian Ji, Chuanzhu Yan, Fuchen Liu, Yuying Zhao   +9 more
doaj   +1 more source

Autosomal Dominant Optic Atrophy [PDF]

, 2020
openaire   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A Rare Case of Fatty Acid Hydroxylase‐Associated Neurodegeneration in a Pakistani Boy With a Homozygous FA2H Variant

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Fatty acid hydroxylase‐associated neurodegeneration (FAHN) is an ultra‐rare neurological disorder caused by a mutation in the FA2H gene. Defective production of this gene leads to abnormal myelin formation, which subsequently causes neurodegeneration and brain iron accumulation.
Araj Naveed Siddiqui, Yamna Naveed Siddiqui, Noor ul Huda Abbasi, Raman Kumar, Hermann Yokolo   +4 more
wiley   +1 more source

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Mehri Salari, Arash Soltani, Masoud Etemadifar, Kamran Rezaei   +3 more
wiley   +1 more source

OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation

Journal of Translational Medicine
Autosomal dominant optic atrophy (ADOA), a leading common inherited optic neuropathy, arises from progressive retinal ganglion cell degeneration, often linked to OPA1 mutations.
Kexuan Zhang, Wenqing Zhang, Lin Zhang, Xiao-Rong Hou, Run-Yi Tian, Zheng-Mao Hu, L. Yin, Zhong-Hua Hu   +7 more
semanticscholar   +1 more source

Organoids: Current Applications and Future Directions

MedComm, Volume 7, Issue 10, October 2026.
Organoids are three‐dimensional multicellular structures derived from stem cells or primary tissues that recapitulate key structural and functional features of native organs. Advances in stem cell biology, biomaterials, and bioengineering have established organoids as powerful platforms for studying human development and disease mechanisms, drug ...
Yueqi Leng, Yue Wang, Canhui Cao, Feng Deng, Weisi Lian, Xingtong Chen, Mingmei Lin, Zhonghong Zeng, Dan Mo, Shangqi Li, Yilei He, Yang Yu, Heng Pan, Ping Zhou, Rong Li   +14 more
wiley   +1 more source