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K. Huehne · SciRah

Researcher profile · Semantic Scholar

K. Huehne

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K. Huehne — researcher profile on SciRah

h-index: 14
Works: 39
Citations: 823

Most-cited papers

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
J. Senderek, C. Bergmann, C. Stendel, J. Kirfel +27 more
2003American Journal of Human Genetics203 citations Open access
Semantic Scholar
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
Alejandro Leal, K. Huehne, Finn Bauer, H. Sticht +24 more
2009Neurogenetics83 citations Open access
Semantic Scholar
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations
K. Brockmann, S. Dreha-Kulaczewski, P. Dechent, C. Bonnemann +7 more
2008Journal of Neurology78 citations Open access
Semantic Scholar
Characterization of a New Bacteriocin Operon in Sakacin P-Producing Lactobacillus sakei, Showing Strong Translational Coupling between the Bacteriocin and Immunity Genes
G. Mathiesen, K. Huehne, L. Kroeckel, L. Axelsson +1 more
2005Applied and Environmental Microbiology70 citations Open access
Semantic Scholar
A novel myosin heavy chain gene in human chromosome 19q13.3.
Alejandro Leal, S. Endele, Corinna Stengel, K. Huehne +4 more
2003Gene67 citations Open access
Semantic Scholar
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.
Jin-Sung Choi, Xiao-Yang Cheng, E. Foster, A. Leffler +9 more
2010Brain : a journal of neurology65 citations Open access
Semantic Scholar
Phenotypic variability in giant axonal neuropathy.
M. Tazir, S. Nouioua, L. Magy, K. Huehne +6 more
2009Neuromuscular Disorders56 citations
Semantic Scholar
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
K. Huehne, C. Zweier, K. Raab, S. Odent +11 more
2008Neuromuscular Disorders33 citations
Semantic Scholar
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation
P. Seeman, R. Mazanec, K. Huehne, P. Suslíková +2 more
2004Neurology31 citations
Semantic Scholar
High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity
K. Huehne, S. Leis, T. Muenster, A. Wehrfritz +7 more
2009European Journal of Pain25 citations
Semantic Scholar
Novel mutations in the Charcot‐Marie‐Tooth disease genes PMP22, MPZ, and GJB1
K. Huehne, V. Beneš, C. Thiel, C. Kraus +7 more
2003Human Mutation23 citations Open access
Semantic Scholar
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.
A. Nalini, Narayanappa Gayathri, T. C. Yasha, S. Ravishankar +3 more
2008European Journal of Medical Genetics22 citations
Semantic Scholar
Identification of Alu elements mediating a partial PMP22 deletion
V. Matejas, K. Huehne, C. Thiel, C. Sommer +2 more
2006Neurogenetics19 citations
Semantic Scholar
Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines.
K. Huehne, B. Rautenstrauss
2001International Journal of Molecular Medicine14 citations
Semantic Scholar
Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy
J. Haberlova, R. Mazanec, P. Ridzoň, L. Báranková +6 more
2011Journal of neurogenetics11 citations
Semantic Scholar
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
Alejandro Leal, K. Huehne, Finn Bauer, H. Sticht +24 more
2009Neurogenetics9 citations Open access
Semantic Scholar
A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease
Maria Marttila, B. Rautenstrauss, K. Huehne, Virpi H. Laitinen +2 more
2012Journal of Neurology6 citations
Semantic Scholar
Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS).
K. Huehne, Ute Schaal, S. Leis, S. Uebe +6 more
2010Neuroscience Letters5 citations
Semantic Scholar
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
P. Laššuthová, L. Báranková, J. Haberlova, R. Mazanec +4 more
2009Journal of Human Genetics2 citations
Semantic Scholar
Phenotypic Variability in a Large Czech Family with a Dynamin 2 – Associated Charcot-Marie-Tooth Neuropathy
J. Haberlova, R. Mazanec, P. Ridzoň, L. Báranková +6 more
20121 citations Open access
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics1 citations
Semantic Scholar
Giant Axonal Neuropathy – a neurodegenerative disorder – a novel mutation in the GAN-Gen
K. Marquard, B. Rautenstrauss, K. Huehne, B. Sassé +2 more
20051 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
B. Rautenstrauss, K. Huehne
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.
B. Rautenstrauss, K. Huehne, C. Kraus, C. Thiel
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
B. Rautenstrauss, K. Huehne
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
B. Rautenstrauss, K. Huehne
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
B. Rautenstrauss, K. Huehne
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
B. Rautenstrauss, K. Huehne
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type X.
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type 1B.
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A.
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.
B. Rautenstrauss, K. Huehne, C. Thiel, C. Kraus
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: MPZ. Disease: Dejerine-Sottas syndrome.
B. Rautenstrauss, K. Huehne
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
B. Rautenstrauss, K. Huehne
2007Human Genetics0 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.
B. Rautenstrauss, K. Huehne
2007Human Genetics0 citations
Semantic Scholar

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