Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1559-1166

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures ; day:2 ; month:6 ; year:2020 ; pages:1-4
Journal of molecular neuroscience ; (2.6.2020), 1-4

Creator: Paramasivam, Arumugam
Meena, Angamuthu K.
Venkatapathi, Challa
Pitceathly, Robert D.S
Thangaraj, Kumarasamy

Contributor: SpringerLink (Online service)

DOI: 10.1007/s12031-020-01595-8

URN: urn:nbn:de:101:1-2020091218443034179748

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:00 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Paramasivam, Arumugam
Meena, Angamuthu K.
Venkatapathi, Challa
Pitceathly, Robert D.S
Thangaraj, Kumarasamy
SpringerLink (Online service)

Other Objects (12)

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

$Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy$

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Novel Biallelic CTSD Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa

Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Carboxypeptidase 4 gene variants and early-onset intermediate-to-high risk prostate cancer

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

$Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy$

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Novel Biallelic CTSD Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa

Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Carboxypeptidase 4 gene variants and early-onset intermediate-to-high risk prostate cancer

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

$Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy$

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Novel Biallelic CTSD Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa

Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Carboxypeptidase 4 gene variants and early-onset intermediate-to-high risk prostate cancer

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Novel Biallelic CTSD Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa

Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Carboxypeptidase 4 gene variants and early-onset intermediate-to-high risk prostate cancer

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Novel Biallelic CTSD Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa

Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Carboxypeptidase 4 gene variants and early-onset intermediate-to-high risk prostate cancer

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Novel Biallelic CTSD Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa

Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Carboxypeptidase 4 gene variants and early-onset intermediate-to-high risk prostate cancer

Related objects

Reset password