J. Denecke

A. Hoischen, J. Denecke, D. Haffner, 2011, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Clinical and molecular genetic features of ARC syndrome

Colin A. Johnson, E. Génin, H. Mandel, 2006, Human Genetics.

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

H. Mandel, F. Müller, F. Rahman, 2010, Nature Genetics.

The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?

J. Denecke, J. Johannsen, S. Wiegand-Grefe, 2020, Health and Quality of Life Outcomes.

Neurofibromatosis type 1

G. Schuierer, J. Denecke, J. Weglage, 2003, Neurology.

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease

K. Nave, W. Möbius, J. Denecke, 2019, Acta Neuropathologica.

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson‐Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

J. Denecke, R. Auchus, H. Robenek, 2006, Human mutation.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a journal of neurology.

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Prescott, N. C. Yeo, S. Nelson, 2020, medRxiv.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

J. Denecke, M. Hempel, P. Deindl, 2019, Journal of Pediatric Genetics.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.

R. Carrozzo, M. Shinawi, M. Tartaglia, 2020, American journal of human genetics.

Exome Sequencing in Children.

T. Meitinger, T. Strom, F. Kortüm, 2019, Deutsches Arzteblatt international.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS)

H. Heimpel, J. Denecke, T. Marquardt, 2008, Glycoconjugate Journal.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

E. Bongers, N. Pachter, J. Denecke, 2021, European Journal of Human Genetics.

Human transmissible spongiform encephalopathies.

R. Paschke, S. Dave, F. Lammert, 1998, Releve epidemiologique hebdomadaire.

[Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature].

J. Denecke, K. Zimmer, R. Kleta, 2000, Klinische Padiatrie.

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

R. Rossi, J. Denecke, F. Meinhardt, 2004, American journal of human genetics.

Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

M. Bullinger, J. Denecke, A. Zapf, 2020, BMC Family Practice.

Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation

J. Denecke, C. Barkmann, S. Wiegand-Grefe, 2020, International journal of environmental research and public health.

Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.

J. Denecke, D. Vestweber, K. Lühn, 2006, Blood.

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.

J. Denecke, T. Marquardt, G. Hammersen, 2007, American journal of human genetics.

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Nurit Assia Batzir, N. Orenstein, J. Denecke, 2021, Annals of neurology.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

R. Person, C. Stevens, E. Marsh, 2021, Brain : a journal of neurology.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

H. Prokisch, F. Kortüm, S. Wortmann, 2021, Clinical genetics.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

Hypoglycosylation due to dolichol metabolism defects.

J. Denecke, C. Kranz, 2009, Biochimica et biophysica acta.

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

H. Freeze, J. Peter-Katalinic, J. Denecke, 2001, The Journal of clinical investigation.

Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence

J. Denecke, J. Weglage, K. Ullrich, 1999, Journal of Inherited Metabolic Disease.

Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

J. Denecke, A. Daubmann, J. Johannsen, 2021, Journal of cellular and molecular medicine.

GDP-fucose transporter Leukocyte adhesion deficiency II patients with a dual defect of the

J. Denecke, D. Vestweber, T. Marquardt, 2013 .

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

K. Lohmann, D. Lessel, J. Denecke, 2019, Journal of the Neurological Sciences.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

F. Eichler, J. Denecke, M. Hempel, 2021, Orphanet Journal of Rare Diseases.

Biomarkersanddiagnosis ofcongenitaldisorders ofglycosylation

Jonas Denecke, J. Denecke, 2009 .

Phenylketonuria: No Specific Frontal Lobe-Dependent Neuropsychological Deficits of Early-Treated Patients in Comparison with Diabetics

J. Denecke, J. Weglage, M. Pietsch, 2002, Pediatric Research.

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

V. Narayanan, A. Afenjar, S. Skinner, 2023, medRxiv.

Epilepsy in neuronal ceroid lipofuscinoses

J. Denecke, A. Kohlschütter, A. Schulz, 2014, Journal of Pediatric Epilepsy.

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

J. Denecke, H. Kölbel, U. Schara, 2018, Journal of neuromuscular diseases.

Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

K. Rostásy, E. Knierim, J. Denecke, 2023, Neurology: Neuroimmunology & Neuroinflammation.

Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

J. Denecke, Joenna Driemeyer, J. Johannsen, 2023, International journal of environmental research and public health.

Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

H. Mandel, F. Müller, F. Rahman, 2011, Nature Genetics.

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

A. Gingras, Chao Lu, Cassandra J. Wong, 2023, Cell.

Common variants in DGKK are strongly associated with risk of hypospadias

L. Kiemeney, B. Franke, J. Veltman, 2011, Nature Genetics.

Hereditary fructose intolerance

Jeroen J. Bax, R. Paschke, S. Dave, 2020, Definitions.

CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

J. Denecke, R. Santer, S. Pohl, 2023, Journal of clinical medicine.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

V. Narayanan, A. Afenjar, T. Chou, 2023, American journal of human genetics.

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

C. Kellinghaus, D. Wieczorek, I. Helbig, 2023, Neurology.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American Journal of Human Genetics.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

T. Strom, D. Lessel, J. Denecke, 2017, European journal of medical genetics.

Prolactin, a marker for cerebral dopamine deficiency in patients suffering from phenylketonuria (PKU)?

J. Denecke, H. Koch, E. Harms, 2000, Journal of Inherited Metabolic Disease.