I. Kurth

T. Kuntze, H. Reichenspurner, I. Kurth, 2017, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.

H. Lidov, I. Kurth, B. Darras, 2019, European journal of medical genetics.

Posterior column ataxia with retinitis pigmentosa coexisting with sensory‐autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation

D. Pareyson, E. Tolosano, I. Kurth, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita

T. Brümmendorf, M. Kreuter, M. Wlodarski, 2018, Leukemia.

Genetic pain loss disorders

David L. Bennett, T. Hornemann, Y. Parman, 2022, Nature Reviews Disease Primers.

Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.

T. Brümmendorf, S. Koschmieder, U. Germing, 2021, Blood advances.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

U. Kontny, M. Zenker, C. Kratz, 2021, Familial Cancer.

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Francisco J. Medrano, S. Brunak, V. Moreno, 2022, Human molecular genetics.

Hereditary Neuropathies Clinical Presentation and Genetic Panel Diagnosis

J. Weis, I. Kurth, M. Häusler, 2018 .

PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa.

I. Kurth, M. Elbracht, M. Begemann, 2019, Parkinsonism & related disorders.

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

T. Eggermann, I. Kurth, M. Elbracht, 2018, European Journal of Human Genetics.

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

T. Hornemann, J. Weis, S. Suriyanarayanan, 2019, The Journal of clinical investigation.

Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans

T. Hornemann, J. Weis, S. Suriyanarayanan, 2018, bioRxiv.

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

V. Tasic, T. Eggermann, C. Kratz, 2020, Journal of Molecular Medicine.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development

J. Shendure, D. Dickel, A. Visel, 2022, bioRxiv.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

J. Rosenfeld, P. Striano, F. Zara, 2022, American journal of human genetics.

Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies

K. Zerres, T. Eggermann, I. Kurth, 2020, Clinical genetics.

Unique phenotype in a patient with CHARGE syndrome

Hyung-Goo Kim, W. Wenzel, I. Meliciani, 2011, International journal of pediatric endocrinology.

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

Saskia Lippens, Riet De Rycke, Franz-Josef Müller, 2018, Cell reports.

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways

C. Kaether, Laura Behrendt, I. Kurth, 2019, Cellular and Molecular Life Sciences.

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.

I. Kurth, C. Fink, T. Lücke, 2017, Molecular and cellular probes.

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

T. Wieland, T. Strom, T. Pieber, 2012, American journal of human genetics.

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1‐mutation due to uniparental disomy

T. Wieland, T. Strom, I. Kurth, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report

C. Redecker, A. Schulz, I. Kurth, 2016, Translational Neurodegeneration.

Differential diagnosis of vacuolar myopathies in the NGS era

A. Ferbert, W. Brück, W. Kress, 2019, Nervenheilkunde.

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

V. Tillmann, P. Chanson, M. Dattani, 2020, Orphanet Journal of Rare Diseases.

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39

C. Eggers, I. Kurth, K. Eggermann, 2022, Journal of Neurology.

Membrane-shaping disorders: a common pathway in axon degeneration.

I. Kurth, C. Hübner, 2014, Brain : a journal of neurology.

Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.

S. Schacht, I. Kurth, M. Elbracht, 2019, Bone.

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

M. Geijer, H. Lochmüller, J. Weis, 2020, Brain : a journal of neurology.

Hereditary Neuropathies.

J. Weis, I. Kurth, M. Häusler, 2018, Deutsches Arzteblatt international.

Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease

Ivan G. Costa, Benjamin S. Freedman, P. Boor, 2022, Nature Genetics.

Renal intercalated cells are rather energized by a proton than a sodium pump

P. Houillier, G. Schwartz, R. Chambrey, 2013, Proceedings of the National Academy of Sciences.

The murine AE4 promoter predominantly drives type B intercalated cell specific transcription

I. Kurth, C. Hübner, M. Hentschke, 2009, Histochemistry and Cell Biology.

Targeted Disruption of the Murine Retinal Dehydrogenase Gene Rdh12 Does Not Limit Visual Cycle Function

M. Schweizer, I. Kurth, C. Hübner, 2006, Molecular and Cellular Biology.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

S. Mundlos, Hitesh Shah, E. Klopocki, 2012, European Journal of Human Genetics.

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

C. Angeletti, P. Huppke, W. Brück, 2019, Experimental Neurology.

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

M. Wiesmann, J. Weis, I. Kurth, 2017, Pediatric neurology.

MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy

H. Reichenspurner, T. Zeller, I. Kurth, 2018, PloS one.

Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling

Ivan G. Costa, J. Saez-Rodriguez, R. Schneider, 2022, Frontiers in Immunology.

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

M. Nöthen, S. Brunak, V. Moreno, 2021, medRxiv.

Isolation and transfection of myenteric neurons from mice for patch-clamp applications

E. Leipold, R. Blum, I. Kurth, 2022, Frontiers in Molecular Neuroscience.

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

C. Woods, J. Tolmie, I. Kurth, 2014, European Journal of Human Genetics.

Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutation

I. Kurth, H. Kalsi, D. Davis, 2012, Vascular medicine.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

Germ Cell Nuclear Factor Is a Repressor of CRIPTO-1 and CRIPTO-3*

I. Kurth, C. Hübner, M. Hentschke, 2006, Journal of Biological Chemistry.

Rdh12 Activity and Effects on Retinoid Processing in the Murine Retina*

A. Swaroop, M. Kane, I. Kurth, 2009, The Journal of Biological Chemistry.

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

T. Eggermann, I. Kurth, S. Lahme, 2018, BMC Nephrology.

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children

I. Kurth, A. Saini, R. Suthar, 2022, Neurology India.

A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)

I. Kurth, S. Jagadeesh, Beena Suresh, 2018, Neuro-ophthalmology.

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

D. Parkhomchuk, J. Hentschel, H. Peters, 2016, Gene.

Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell epitope mapping

J. Sáez-Rodríguez, R. Schneider, I. Costa, 2021, bioRxiv.

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

L. Schöls, C. Biskup, M. Kessels, 2013, PLoS genetics.

Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors

J. Schüttler, A. Winterpacht, B. Winner, 2018, EBioMedicine.

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Cheol‐Hee Kim, M. Tekin, T. Nagase, 2010, American journal of human genetics.

The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice.

P. Houillier, A. Sinning, R. Miller, 2010, The Journal of clinical investigation.

The forkhead transcription factor Foxi1 directly activates the AE4 promoter.

I. Kurth, C. Hübner, M. Hentschke, 2006, The Biochemical journal.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American journal of human genetics.

Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations

M. Bauer, I. Kurth, C. Hübner, 2019, PloS one.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

G. Nürnberg, P. Nürnberg, V. Timmerman, 2009, Nature Genetics.

Sensory neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering

B. Asselbergh, S. Savvides, S. Janssens, 2017, bioRxiv.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Genetics meets function in sodium channel-related pain disorders

I. Kurth, A. Lampert, N. Haag, 2022, Neuroforum.

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Andreas C. Themistocleous, I. Katona, T. Wieland, 2015, Nature Genetics.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

M. Tekin, J. Gusella, S. Eom, 2008, American journal of human genetics.

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19

Konrad U. Förstner, Philipp H. Schiffer, Joseph M. Johnson, 2021, Immunity.

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39

C. Eggers, I. Kurth, K. Eggermann, 2022, Journal of Neurology.

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients

Konrad U. Förstner, Philipp H. Schiffer, P. Bork, 2020, Genome Medicine.

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

S. Mundlos, A. Wilkie, E. Klopocki, 2009, Nature Genetics.

Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability

Juha Voipio, Jaana Tyynelä, J. Voipio, 2008, Proceedings of the National Academy of Sciences.

IL-6-Induced Receptor Activation Transducer gp130 Sequentially Cooperate on Two Different Epitopes of the Signal

Gerhard Müller-Newen, Stefan Pflanz, Ingo Kurth, 2013 .

Two Different Epitopes of the Signal Transducer gp130 Sequentially Cooperate on IL-6-Induced Receptor Activation1

P. Heinrich, G. Müller-Newen, J. Grötzinger, 2000, The Journal of Immunology.

Importance of the Membrane-Proximal Extracellular Domains for Activation of the Signal Transducer Glycoprotein 1301

P. Heinrich, G. Müller-Newen, I. Kurth, 2000, The Journal of Immunology.

Activation of the signal transducer glycoprotein 130 by both IL-6 and IL-11 requires two distinct binding epitopes.

P. Heinrich, G. Müller-Newen, J. Grötzinger, 1999, Journal of immunology.

Signal Transducer Glycoprotein 130 Extracellular Domains for Activation of the Importance of the Membrane-Proximal Tacken

P. Heinrich, I. Kurth, S. Pflanz, 1999 .

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

G. Binder, G. Johannsson, I. Kurth, 2022, Endocrine connections.

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

T. Eggermann, I. Kurth, M. Elbracht, 2018, European Journal of Human Genetics.

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

I. Kurth, M. Elbracht, R. Meyer, 2018, Der Internist.

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

I. Kurth, M. Elbracht, F. Kraft, 2019, Clinical Epigenetics.

Mice with a Targeted Disruption of the Cl−/HCO3− Exchanger AE3 Display a Reduced Seizure Threshold

T. Seidenbecher, M. Wiemann, T. Jentsch, 2006, Molecular and Cellular Biology.

Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.

T. Eggermann, I. Kurth, M. Elbracht, 2019, European journal of medical genetics.

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Peter Nürnberg, Janine Altmüller, Joachim Weis, 2013, Nature Genetics.

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

F. Brancati, B. Dallapiccola, G. Cestra, 2014, The Journal of investigative dermatology.

Uniparental disomy as an unexpected cause of Meckel–Gruber syndrome: report of a case

K. Zerres, T. Eggermann, I. Kurth, 2017, Pediatric Nephrology.

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency

C. Kuhl, K. Tenbrock, I. Kurth, 2016, Neuropediatrics.

Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.

M. Holtgrewe, D. Beule, U. Scholl, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

H. Hameister, P. Propping, S. Aretz, 2009, The Journal of molecular diagnostics : JMD.

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.

I. Kurth, M. Elbracht, C. Knopp, 2022, Deutsches Arzteblatt international.

Genome sequencing in families with congenital limb malformations

D. Horn, S. Mundlos, M. Spielmann, 2021, Human Genetics.

Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Clusters Based on Integrated Genomic Surveillance, Outbreak Analysis and Contact Tracing in an Urban Setting

Konrad U. Förstner, Philipp H. Schiffer, Jonathan L. Schmid-Burgk, 2021, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

C. Sommer, C. Libioulle, A. Borkhardt, 2021, The Journal of clinical investigation.

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

C. Sommer, C. Libioulle, A. Borkhardt, 2021, medRxiv.

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

C. Woods, J. Tolmie, I. Kurth, 2015, European Journal of Human Genetics.

Clinical report: Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - association with a homozygous 2bp-insertion in LTBP2?

T. Orlikowsky, K. Tenbrock, I. Kurth, 2021, European journal of medical genetics.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Y. Wada, E. Schaftingen, S. Mahmood, 2013, American journal of human genetics.

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

L. Bottolo, G. Binder, I. Kurth, 2023, Clinical Epigenetics.

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

T. Eggermann, B. Albrecht, J. Beygo, 2017, Molecular genetics & genomic medicine.

CLCN7 and TCIRG1 Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals

A. Schulz, U. Kornak, M. Hahn, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI

J. Dukart, P. Kochunov, S. Muthukumaraswamy, 2023, Translational Psychiatry.

The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells

V. Mattis, I. Kurth, B. Denecke, 2021, Scientific Reports.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

F. Wagner, P. Frommolt, G. Nürnberg, 2011, American journal of human genetics.

Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosis

C. Trautwein, J. Bernhagen, R. Bucala, 2020, JHEP reports : innovation in hepatology.

A functional role of the membrane-proximal extracellular domains of the signal transducer gp130 in heterodimerization with the leukemia inhibitory factor receptor.

P. Heinrich, G. Müller-Newen, I. Kurth, 2002, European journal of biochemistry.

Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

T. Brümmendorf, S. Koschmieder, L. Manco, 2022, Clinical case reports.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

A. Hoischen, Martin Kircher, D. Horn, 2023, Nature.

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

U. Felbor, A. Flöel, F. von Podewils, 2019, Front. Neurol..

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy

I. Kurth, G. Korenke, E. Bültmann, 2022, Genes.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Mutations in CRLF1 cause familial achalasia

A. Busch, I. Buers, I. Kurth, 2017, Clinical genetics.

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

I. Katona, S. Heinemann, P. Gong, 2015, Nature Communications.

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

I. Kurth, M. Elbracht, M. Begemann, 2018, Molecular genetics & genomic medicine.

Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy

G. Hummer, I. Katona, J. Gleeson, 2023, Nature.

Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria

M. Heuser, T. Brümmendorf, M. Kreuter, 2023, HemaSphere.

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways

C. Kaether, Laura Behrendt, I. Kurth, 2019, Cellular and Molecular Life Sciences.

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

T. Eggermann, I. Kurth, M. Elbracht, 2019, Clinical Epigenetics.

Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report

C. Redecker, A. Schulz, I. Kurth, 2016, Translational Neurodegeneration.

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco

I. Kurth, M. Elbracht, Matthias Begemann, 2023, Bone reports.

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

T. Neuhann, A. von Moers, I. Kurth, 2023, Journal of neuromuscular diseases.

Novel Homozygous Missense Mutation in ALDH7A1 Causes Neonatal Pyridoxine-Dependent Epilepsy

G. Gruning, I. Kurth, T. Lücke, 2017, Neuropediatrics.

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

S. Rudnik-Schöneborn, W. Löscher, P. Andersen, 2022, Journal of Medical Genetics.

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

E. Tan, G. Mochida, M. Al-Saffar, 2021, European Journal of Human Genetics.

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene

I. Kurth, A. Saini, P. Singhi, 2017, The Indian Journal of Pediatrics.

Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients

T. Eggermann, P. Wieacker, I. Kurth, 2018, Molecular genetics & genomic medicine.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor Disorder

C. Eggers, I. Kurth, K. Eggermann, 2022 .

6th European Congress of Immunology, 1-4 September 2021, Virtual meeting.

Konrad U. Förstner, Philipp H. Schiffer, M. Nöthen, 2021, European journal of immunology.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot

E. Leipold, I. Kurth, T. Challman, 2017, neurogenetics.

* Peripheral Neuropathies

I. Kurth, 2020 .

Different epitopes are required for gp130 activation by interleukin‐6, oncostatin M and leukemia inhibitory factor

P. Heinrich, G. Müller-Newen, J. Grötzinger, 2000, FEBS letters.

Sensory-Neuropathy-Caus ing Mutations in ATL 3 Cause Aberrant ER Membrane Tethering Graphical

B. Asselbergh, S. Savvides, S. Janssens, 2018 .

Peripheral sensory neuropathies – pain loss vs. pain gain

C. Woods, I. Kurth, J. Cox, 2020, Medizinische Genetik.

Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect

Raya A. Bott, M. Bialer, I. Kurth, 2021, Channels.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American journal of human genetics.

Neuropathische Schmerzsyndrome bei Ionenkanalerkrankungen

N. Üçeyler, I. Kurth, A. Lampert, 2018, Der Internist.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Annelot M. Dekker, Raymond D. Schellevis, Ashley R. Jones, 2016, Nature Genetics.