S. Timal

发表

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

R. Pfundt, C. Biot, R. Rodenburg, 2018, Human molecular genetics.

Gene identiﬁcation in the congenital disorders of glycosylation type I by whole-exome sequencing

A. Hoischen, J. Veltman, R. Rodenburg, 2012 .

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

A. Hoischen, M. Huynen, Y. Wada, 2016, American journal of human genetics.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Role of curcumin and the inhibition of NF-κB in the onset of chemotherapy-induced mucosal barrier injury

J. Donnelly, S. Timal, N. Blijlevens, 2004, Leukemia.

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

T. Stevens, J. Veltman, R. Rodenburg, 2020, Hepatology.

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

A. Hoischen, M. Huynen, J. Veltman, 2016, American journal of human genetics.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, G. Pruijn, 2018, Nature Communications.

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

R. Rodenburg, K. Majamaa, J. Smeitink, 2007, Molecular genetics and metabolism.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy

G. Pruijn, J. Veltman, H. Prokisch, 2017, Human mutation.

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

R. Rodenburg, L. Nijtmans, F. Distelmaier, 2017, Molecular genetics and metabolism.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, J. Veltman, 2018, Nature Communications.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

A. Kurolap, C. Dallabona, Christopher A. Powell, 2020 .

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

A. Hoischen, M. Huynen, J. Veltman, 2016, American journal of human genetics.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.