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Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients

Journal of neurology, 2021-06, Vol.268 (6), p.2065-2082

2021

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Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.461-461, Article 461

2021

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Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus

Lupus, 2021-07, Vol.30 (8), p.1273-1282

2021

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Assessing the influence of aneurysm dimensions on hemodynamic patterns and wall deformation dynamics for predicting rupture risk

Results in engineering, 2024-06, Vol.22, p.102145, Article 102145

2024

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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Nature communications, 2019-10, Vol.10 (1), p.4790-13, Article 4790

2019

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Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

Scientific reports, 2020-01, Vol.10 (1), p.968-968, Article 968

2020

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Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Human genetics, 2022-04, Vol.141 (3-4), p.785-803

2022

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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Npj genomic medicine, 2021-11, Vol.6 (1), p.94-94, Article 94

2021

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A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy

Journal of ophthalmic & vision research, 2024-01, Vol.19 (1), p.118-132

2024

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A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndrome

International ophthalmology, 2021-02, Vol.41 (2), p.389-397

2021

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RAB7L1 promoter polymorphism and risk of Parkinson's disease; a case-control study

Neurological research (New York), 2017-05, Vol.39 (5), p.468-471

2017

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Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations

International ophthalmology, 2021-10, Vol.41 (10), p.3269-3276

2021

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PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life

Frontiers in molecular neuroscience, 2021-09, Vol.14, p.720973-720973

2021

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Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

Genes & diseases, 2020-12, Vol.7 (4), p.614-619

2020

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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

HGG advances, 2024-10, Vol.5 (4), p.100327, Article 100327

2024

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Thermal mapping analysis of a 48V prismatic lithium-ion battery pack with active and passive cooling

Journal of physics. Conference series, 2023-12, Vol.2648 (1), p.12098

2023

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Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

Npj genomic medicine, 2017-06, Vol.2 (1), p.1-4, Article 20

2017

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Influence of Helicobacter pylori virulence factors CagA and VacA on pathogenesis of gastrointestinal disorders

Microbial pathogenesis, 2018-04, Vol.117, p.43-48

2018

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Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals

International journal of molecular and cellular medicine, 2016, Vol.5 (3), p.196-198

2016

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RIT2: responsible and susceptible gene for neurological and psychiatric disorders

Molecular genetics and genomics : MGG, 2018-08, Vol.293 (4), p.785-792

2018

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A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity

Neurogenetics, 2023-10, Vol.24 (4), p.311-316

2023

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Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

International journal of molecular and cellular medicine, 2016, Vol.5 (4), p.236-245

2016

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Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II

International journal of pediatric otorhinolaryngology, 2020-08, Vol.135, p.110014, Article 110014

2020

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Identification of a large homozygous VPS13C deletion in a patient with early‐onset Parkinsonism

Movement disorders, 2018-12, Vol.33 (12), p.1968-1970

2018

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Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients

Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus

Assessing the influence of aneurysm dimensions on hemodynamic patterns and wall deformation dynamics for predicting rupture risk

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndrome

RAB7L1 promoter polymorphism and risk of Parkinson's disease; a case-control study

Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations

PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life

Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

Thermal mapping analysis of a 48V prismatic lithium-ion battery pack with active and passive cooling

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

Influence of Helicobacter pylori virulence factors CagA and VacA on pathogenesis of gastrointestinal disorders

Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals

RIT2: responsible and susceptible gene for neurological and psychiatric disorders

A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity

Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II

Identification of a large homozygous VPS13C deletion in a patient with early‐onset Parkinsonism

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