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Reply to S Minisola et al

The American journal of clinical nutrition, 2021-09, Vol.114 (3), p.1252-1253

2021

Volltextzugriff (PDF)

The role of cathelicidins in neutrophil biology

Journal of leukocyte biology, 2024-05

2024

Volltextzugriff (PDF)

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nature (London), 2017-01, Vol.541 (7635), p.87-91

2017

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The splicing factor SF2/ASF binds to ARS homologs in a human rDNA replication origin

Cell cycle (Georgetown, Tex.), 2009-08, Vol.8 (16), p.2631-2642

2009

Volltextzugriff (PDF)

Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design

Neurology, 2022-10, Vol.99 (14), p.e1499

2022

Volltextzugriff (PDF)

A pilot-randomized, double-blind crossover trial to evaluate the pharmacokinetics of orally administered 25-hydroxyvitamin D3 and vitamin D3 in healthy adults with differing BMI and in adults with intestinal malabsorption

The American journal of clinical nutrition, 2021-09, Vol.114 (3), p.1189-1199

2021

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De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

American journal of human genetics, 2022-04, Vol.109 (4), p.759-763

2022

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Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Human molecular genetics, 2019-01, Vol.28 (2), p.290-306

2019

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature genetics, 2021-07, Vol.53 (7), p.1006-1021

2021

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Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia

Annals of neurology, 2022-05, Vol.91 (5), p.730-732

2022

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De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus

Human molecular genetics, 2021-02, Vol.29 (24), p.3892-3899

2021

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Elevated blood levels of inflammation-related proteins are associated with an attention problem at age 24 mo in extremely preterm infants

Pediatric research, 2014-06, Vol.75 (6), p.781-787

2014

Volltextzugriff (PDF)

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

American journal of human genetics, 2020-12, Vol.107 (6), p.1170-1177

2020

Volltextzugriff (PDF)

Quantitative MRI Characterization of the Extremely Preterm Brain at Adolescence: Atypical versus Neurotypical Developmental Pathways

Radiology, 2022-08, Vol.304 (2), p.419-428

2022

Volltextzugriff (PDF)

KCNA2 mutations are rare in hereditary spastic paraplegia

Annals of neurology, 2017-02, Vol.81 (2), p.325-326

2017

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Psychometric properties of the Friedreich Ataxia Rating Scale

Neurology. Genetics, 2019-12, Vol.5 (6), p.371-371

2019

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Choice of Dose Level for a Randomized Clinical Trial of Low-Dose Bevacizumab vs Laser for Type 1 Retinopathy of Prematurity

JAMA ophthalmology, 2021-10, Vol.139 (10), p.1143

2021

Volltextzugriff (PDF)

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

American journal of human genetics, 2016-01, Vol.98 (1), p.202-209

2016

Volltextzugriff (PDF)

Early life antecedents of positive child health among 10-year-old children born extremely preterm

Pediatric research, 2019-12, Vol.86 (6), p.758-765

2019

Volltextzugriff (PDF)

Weight Status in the First 2 Years of Life and Neurodevelopmental Impairment in Extremely Low Gestational Age Newborns

The Journal of pediatrics, 2016-01, Vol.168, p.30-35.e2

2016

Volltextzugriff (PDF)

Understanding positive child health

Pediatric research, 2019-12, Vol.86 (6), p.690-691

2019

Volltextzugriff (PDF)

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

Neurology. Genetics, 2019-10, Vol.5 (5), p.e359-e359

2019

Volltextzugriff (PDF)

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

American journal of human genetics, 2016-06, Vol.98 (6), p.1271-1271

2016

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Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

Neurology. Genetics, 2021-12, Vol.7 (6), p.e638-e638

2021

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Reply to S Minisola et al

The role of cathelicidins in neutrophil biology

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

The splicing factor SF2/ASF binds to ARS homologs in a human rDNA replication origin

Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design

A pilot-randomized, double-blind crossover trial to evaluate the pharmacokinetics of orally administered 25-hydroxyvitamin D3 and vitamin D3 in healthy adults with differing BMI and in adults with intestinal malabsorption

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus

Elevated blood levels of inflammation-related proteins are associated with an attention problem at age 24 mo in extremely preterm infants

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

Quantitative MRI Characterization of the Extremely Preterm Brain at Adolescence: Atypical versus Neurotypical Developmental Pathways

KCNA2 mutations are rare in hereditary spastic paraplegia

Psychometric properties of the Friedreich Ataxia Rating Scale

Choice of Dose Level for a Randomized Clinical Trial of Low-Dose Bevacizumab vs Laser for Type 1 Retinopathy of Prematurity

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Early life antecedents of positive child health among 10-year-old children born extremely preterm

Weight Status in the First 2 Years of Life and Neurodevelopmental Impairment in Extremely Low Gestational Age Newborns

Understanding positive child health

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

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