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Jürgen Seeger

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
2009 · Woranontee Weraarpachai, Hana Antonicka, et al. · Nature Genetics · 312
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
2010 · M. A. Willemsen, M. M. Verbeek, et al. · Brain · 244
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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
2015 · Isabelle Thiffault, Nicole I. Wolf, et al. · Nature Communications · 180
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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4
2007 · Claudia Stendel, Andreas Roos, et al. · The American Journal of Human Genetics · 139
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Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany
2019 · Janna Riechmann, Laurent M. Willems, et al. · Seizure · 118
Costs of epilepsy and cost‐driving factors in children, adolescents, and their caregivers in G ermany
2015 · Janna Riechmann, Adam Strzelczyk, et al. · Epilepsia · 113
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Pontocerebellar hypoplasia type 1
2013 · Sabine Rudnik-Schöneborn, Jan Senderek, et al. · Neurology · 104
Muscle MRI findings in limb girdle muscular dystrophy type 2L
2012 · Anna Sarkozy, Marcus Deschauer, et al. · Neuromuscular Disorders · 94
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy
2002 · Sabine Rudnik‐Schöneborn, László Sztriha, et al. · American Journal of Medical Genetics Part A · 81
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation
2013 · Anna Sarkozy, Debbie Hicks, et al. · Human Mutation · 72
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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
2019 · Joery P Molenaar, Jamie I Verhoeven, et al. · Brain · 44
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Clinical and neuropathological findings in patients with TACO1 mutations
2010 · Jürgen Seeger, Bertold Schrank, et al. · Neuromuscular Disorders · 44
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
2007 · Marcel M. Verbeek, Gerry C. H. Steenbergen‐Spanjers, et al. · Annals of Neurology · 37
Genotype–phenotype correlation and treatment effects in young patients withGNAO1-associated disorders
2023 · Moritz Thiel, Daniel Bamborschke, et al. · Journal of Neurology Neurosurgery & Psychiatry · 26
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study
2016 · Sarah Wente, Simone Schröder, et al. · Orphanet Journal of Rare Diseases · 24
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
2023 · Reza Maroofian, Rauan Kaiyrzhanov, et al. · Brain · 21
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The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
2023 · Simone Schröder, Gökhan Yigit, et al. · Orphanet Journal of Rare Diseases · 7
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Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait
2024 · Jamie I. Verhoeven, Jasper Kramer, et al. · Neurology · 5
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy
2018 · Ann-Kathrin Zaum, Konstantinos Kolokotronis, et al. · Neuromuscular Disorders · 1
Additional file 1: of Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study
2016 · Wente, Sarah, Schröder, Simone, et al. · Figshare
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation
2013 · Anna Sarkozy, Debbie Hicks, et al. · Newcastle University ePrints (Newcastle Univesity)
Intrakranielle Zyste in H�he des Os frontale
2003 · J. Gierich, D. Weitzel, et al. · Monatsschrift Kinderheilkunde
Works count: 22
Citation count: 1,666
H-index: 16
I10-index: 16
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