| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
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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Riffi, Rachda
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26 |
1 |
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artikel
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| 2 |
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis
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Kiraz, Aslihan
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26 |
1 |
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artikel
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| 3 |
A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family
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Wang, Bin
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26 |
1 |
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artikel
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| 4 |
A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy
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Karabinos, Anton
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26 |
1 |
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artikel
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| 5 |
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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Akcesme, Betul
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26 |
1 |
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artikel
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| 6 |
A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome
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Maznina, Anna
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26 |
1 |
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artikel
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| 7 |
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population
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Kart, Pinar Ozkan
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26 |
1 |
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artikel
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| 8 |
Association of LRRK2 R1628P variant with Parkinson’s disease in Kinh Vietnamese: a cross-sectional study
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Do, Minh Duc
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26 |
1 |
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artikel
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| 9 |
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024
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Ahmad, Riaz
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26 |
1 |
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artikel
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| 10 |
ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)
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Edgar, Suzanna
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26 |
1 |
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artikel
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| 11 |
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype
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Karatas, Emine
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26 |
1 |
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artikel
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| 12 |
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases
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Yigit, Zehra Manav
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26 |
1 |
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artikel
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| 13 |
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome
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Ghasemi, Aida
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26 |
1 |
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artikel
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| 14 |
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2
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Gana, Simone
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26 |
1 |
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artikel
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| 15 |
Computational association in parkinson’s disease SNPs with brain structural and functional alterations
|
Subramaniyan, Swetha
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26 |
1 |
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artikel
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| 16 |
Computational modeling design of novel NMDAR agonist for the treatment of Schizophrenia
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Manica, Amena Khatun
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26 |
1 |
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artikel
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| 17 |
Correction to: Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
|
Lin, Zhi-Jian
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26 |
1 |
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artikel
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| 18 |
DHDDS-related epilepsy with hippocampal atrophy: a case report
|
de Oliveira Franco, Álvaro
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26 |
1 |
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artikel
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| 19 |
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants
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Sagi-Dain, Lena
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26 |
1 |
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artikel
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| 20 |
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms
|
Cotrin, Juliana Cordovil
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26 |
1 |
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artikel
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| 21 |
Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine
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Prakash, Vijeta
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26 |
1 |
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artikel
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| 22 |
Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene
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Parfenenko, Mariia A.
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26 |
1 |
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artikel
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| 23 |
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias
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Messaoud-Khelifi, Mouna
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26 |
1 |
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artikel
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| 24 |
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene
|
Perera, B. Lakshitha A.
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26 |
1 |
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artikel
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| 25 |
Genetic and expressional insights into the association of TRAPPC10 variants with neurodevelopmental disorders
|
Wang, Peng-Yu
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26 |
1 |
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artikel
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| 26 |
Genetic variants associated with idiopathic Parkinson’s disease in Latin America: A systematic review
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Duarte-Zambrano, Felipe
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26 |
1 |
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artikel
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| 27 |
Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation
|
Poorshiri, Bita
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26 |
1 |
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artikel
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| 28 |
Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay
|
Sun, Xiaolan
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26 |
1 |
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artikel
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| 29 |
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing
|
Li, Bao-Guang
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26 |
1 |
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artikel
|
| 30 |
Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer’s disease
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Hosseinpouri, Arghavan
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26 |
1 |
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artikel
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| 31 |
Identification of mutations in five Pakistani families with Epilepsy
|
Ahsan, Nayab
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26 |
1 |
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artikel
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| 32 |
Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family
|
Nozari, Ahoura
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26 |
1 |
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artikel
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| 33 |
KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity
|
Benzoni, Chiara
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26 |
1 |
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artikel
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| 34 |
Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases
|
Zhang, Jingjing
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26 |
1 |
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artikel
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| 35 |
Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum
|
Pan, Hu
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26 |
1 |
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artikel
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| 36 |
Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile)
|
Mondal, Ritwick
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26 |
1 |
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artikel
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| 37 |
Neurodegeneration with brain iron accumulation 5: report of three cases
|
Khalilian, Sheyda
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26 |
1 |
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artikel
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| 38 |
Neuroinflammation and neurodegeneration in Huntington’s disease: genetic hallmarks, role of metals and organophosphates
|
Kunwar, Omkar Kumar
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26 |
1 |
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artikel
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| 39 |
Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties
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Maximiano-Alves, Gustavo
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26 |
1 |
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artikel
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| 40 |
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss
|
Lu, Mengyi
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26 |
1 |
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artikel
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| 41 |
Nutrigenomics and neurological disorders: exploring diet-brain interactions for cognitive health
|
Waheed, Atifa
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26 |
1 |
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artikel
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| 42 |
Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome
|
Margiotti, Katia
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26 |
1 |
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artikel
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| 43 |
Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy
|
Kaki, Arastoo
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26 |
1 |
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artikel
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| 44 |
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families
|
Aynekin, Busra
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26 |
1 |
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artikel
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| 45 |
Pro-inflammatory cytokine genetic variants show variable susceptibility to mild cognitive impairment, alzheimer’s disease and frontotemporal dementia in South India
|
Mallika, Aswathy Peethambaran
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26 |
1 |
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artikel
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| 46 |
Retraction Note: Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China
|
Zhao, Yinglin
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26 |
1 |
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artikel
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| 47 |
Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters
|
Dobhal, Vaishali
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26 |
1 |
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artikel
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| 48 |
The association of SCN1A polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis
|
Mohammadi, Ida
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26 |
1 |
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artikel
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| 49 |
The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disorders
|
Bahdar, Zainab I.
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26 |
1 |
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artikel
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| 50 |
Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69
|
Sadr, Zahra
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26 |
1 |
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artikel
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| 51 |
Understanding pathophysiology in fragile X syndrome: a comprehensive review
|
Juárez, Juan Carlos Castillo
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26 |
1 |
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artikel
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| 52 |
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family
|
Khan, Hayat
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26 |
1 |
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artikel
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| 53 |
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review
|
Harahsheh, Ehab Y.
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26 |
1 |
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artikel
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| 54 |
Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities
|
Pal, Akansha
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26 |
1 |
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artikel
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