H. Rosewich

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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

Birgit Zirn, Peter Nürnberg, Peter Frommolt, 2012, The Lancet Neurology.

Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.

J. Gärtner, H. Rosewich, C. Krause, 2013, Human molecular genetics.

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

L. Pardo, J. Gärtner, K. Brockmann, 2020, Neurobiology of Disease.

Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1^tm1Kds mice and Xâ•’linked adrenoleukodystrophy patients

S. Nessler, J. Gärtner, H. Rosewich, 2021 .

B cell depletion can be effective in multiple sclerosis but failed in a patient with advanced childhood cerebral X-linked adrenoleukodystrophy

W. Brück, S. Nessler, J. Gärtner, 2019, Therapeutic advances in neurological disorders.

How to Detect Isolated PEX10-Related Cerebellar Ataxia?

B. Hartmann, S. Thoms, E. Boltshauser, 2022, Neuropediatrics.

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients

J. Gärtner, H. Rosewich, C. Krause, 2006, Human mutation.

Peroxisomal protein PEX13 functions in selective autophagy

Prashant Mishra, D. Crane, R. Sumpter, 2016, EMBO reports.

Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome

K. Dzieżyc, A. Ohlenbusch, H. Rosewich, 2018, Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology.

Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

J. Gärtner, H. Rosewich, S. Grønborg, 2011, JIMD reports.

Clinical presentation of pediatric multiple sclerosis before puberty

T. Friede, P. Huppke, J. Gärtner, 2014, European journal of neurology.

Association of Overweight and Obesity With Bell Palsy in Children.

A. Leha, J. Gärtner, H. Rosewich, 2022, Pediatric neurology.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

M. Bitner-Glindzicz, C. Möller, T. Bek, 2018, Human Genetics.

Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients

J. Gärtner, H. Rosewich, S. Weller, 2008, Journal of Inherited Metabolic Disease.

Inborn errors of metabolism leading to neuronal migration defects

J. Gärtner, H. Rosewich, S. Grünewald, 2019, Journal of inherited metabolic disease.

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

S. Ferdinandusse, H. Waterham, H. Rosewich, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.

S. Ferdinandusse, H. Waterham, R. Wanders, 2006, Neuropediatrics.

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations

J. Gärtner, A. Ohlenbusch, H. Rosewich, 2005, Journal of Medical Genetics.

Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum[S]

J. Sass, A. Das, M. Peter, 2010, Journal of Lipid Research.

Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes

S. Thoms, J. Gärtner, F. Göttfert, 2018, Scientific Reports.

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

S. Thoms, J. Gärtner, A. Ohlenbusch, 2011, BMC Medical Genetics.

Rational diagnostic strategy for Zellweger syndrome spectrum patients

J. Gärtner, H. Rosewich, C. Krause, 2009, European Journal of Human Genetics.