Works matching IS 13646745 AND DT 2025 AND VI 26 AND IP 1
Results: 40
Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00808-9
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- Article
Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00818-7
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- Article
A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00814-x
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- Article
Investigating the gut microbiome in schizophrenia cases versus controls: South Africa's version.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00816-9
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- Article
The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00813-y
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- Article
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00810-1
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- Article
ABCB1 c.3435 C > T (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings report.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00807-w
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- Article
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00815-w
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- Article
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00812-z
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- Article
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00811-0
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- Article
Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer's disease.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00806-x
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- Article
Retraction Note: Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00809-8
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- Article
Genetic and expressional insights into the association of TRAPPC10 variants with neurodevelopmental disorders.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00804-z
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- Article
Correction to: Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.
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- 2025
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- Correction Notice
The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disorders.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00803-0
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- Article
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00799-7
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Neuroinflammation and neurodegeneration in Huntington’s disease: genetic hallmarks, role of metals and organophosphates.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00801-2
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- Article
Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00800-3
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- Article
ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00798-0
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- Article
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00797-1
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- Article
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00797-1
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- Article
Computational modeling design of novel NMDAR agonist for the treatment of Schizophrenia.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00796-2
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- Article
Computational modeling design of novel NMDAR agonist for the treatment of Schizophrenia.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00796-2
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- Article
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00795-3
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Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00795-3
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- Article
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00782-8
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- Article
Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00792-6
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- Article
Neurodegeneration with brain iron accumulation 5: report of three cases.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00783-7
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Nutrigenomics and neurological disorders: exploring diet-brain interactions for cognitive health.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00791-7
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- Article
Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00790-8
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Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00789-1
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Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00787-3
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Analysis of Alzheimer’s disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00786-4
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Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00784-6
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Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00781-9
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DHDDS-related epilepsy with hippocampal atrophy: a case report.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00780-w
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Understanding pathophysiology in fragile X syndrome: a comprehensive review.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00794-4
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Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00793-5
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Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00785-5
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- Article
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.
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- Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00788-2
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