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

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Standort: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1559-1166

Umfang: Online-Ressource

Sprache: Englisch

Anmerkungen: online resource.

Erschienen in: 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

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

Beteiligte Personen und Organisationen: SpringerLink (Online service)

DOI: 10.1007/s12031-020-01595-8

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

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

Letzte Aktualisierung: 14.08.2025, 11:00 MESZ

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Beteiligte

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

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

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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

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

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Ähnliche Objekte (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

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