Biallelic mutations in NRROS cause an early onset lethal microgliopathy

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1432-0533

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Biallelic mutations in NRROS cause an early onset lethal microgliopathy ; volume:139 ; number:5 ; day:25 ; month:2 ; year:2020 ; pages:947-951 ; date:5.2020
Acta neuropathologica ; 139, Heft 5 (25.2.2020), 947-951, 5.2020

Creator: Smith, Colin
McColl, Barry W.
Patir, Anirudh
Barrington, Jack
Armishaw, Jeremy
Clarke, Antonia
Eaton, Jenny
Hobbs, Vivienne
Mansour, Sahar
Nolan, Melinda
Rice, Gillian I.
Rodero, Mathieu P.
Seabra, Luis
Uggenti, Carolina
Livingston, John H.
Bridges, Leslie R.
Jeffrey, Iona J. M.
Crow, Yanick J.

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00401-020-02137-7

URN: urn:nbn:de:101:1-2020070406323513402534

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

Last update: 14.08.2025, 10:59 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

Smith, Colin
McColl, Barry W.
Patir, Anirudh
Barrington, Jack
Armishaw, Jeremy
Clarke, Antonia
Eaton, Jenny
Hobbs, Vivienne
Mansour, Sahar
Nolan, Melinda
Rice, Gillian I.
Rodero, Mathieu P.
Seabra, Luis
Uggenti, Carolina
Livingston, John H.
Bridges, Leslie R.
Jeffrey, Iona J. M.
Crow, Yanick J.
SpringerLink (Online service)

Other Objects (12)

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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

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

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 GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

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

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

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

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

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

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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

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

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 GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

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

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

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

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

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

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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

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

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 GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

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

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

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

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

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

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

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.

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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

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 GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

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

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

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

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

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

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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

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 GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

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

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

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

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

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

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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

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 GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

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

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

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

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

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

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency

Related objects

Reset password