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Papers authored by Rautenstrauss B

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Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS).

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Huehne K, Schaal U, Leis S, Uebe S, Gosso MF, van den Maagdenberg AM, Maihöfner C, Birklein F, Rautenstrauss B, and Winterpacht A

Neuroscience letters 472(1):19-23, 2010 Mar 12 - Who cited this? | PubMed ID: 20105452 | Fulltext

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

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Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, and Reis A

Investigative ophthalmology & visual science 51(1):249-54, 2010 Jan - Who cited this? | PubMed ID: 19643970 | Fulltext

High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity.

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Huehne K, Leis S, Muenster T, Wehrfritz A, Winter S, Maihöfner C, Foertsch T, Croner R, Reis A, Winterpacht A, and Rautenstrauss B

European journal of pain (London, England) 13(10):1036-42, 2009 Nov - Who cited this? | PubMed ID: 19167252 | Fulltext

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.

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Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B,

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Neurogenetics 10(4):275-87, 2009 Oct - Who cited this? | PubMed ID: 19290556 | Fulltext

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma.

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Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstätter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA,

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American journal of human genetics 85(4):447-56, 2009 Oct - Who cited this? | PubMed ID: 19765683 | Fulltext

Phenotypic variability in giant axonal neuropathy.

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Tazir M, Nouioua S, Magy L, Huehne K, Assami S, Urtizberea A, Grid D, Hamadouche T, Rautenstrauss B, and Vallat JM

Neuromuscular disorders : NMD 19(4):270-4, 2009 Apr - Who cited this? | PubMed ID: 19231187 | Fulltext

Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.

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Berghoff C, Berghoff M, Leal A, Morera B, Contreras C, Barrantes R, Rautenstrauss B, Del Valle G, and Heuss D

Neurological research 31(3):283-8, 2009 Apr - Who cited this? | PubMed ID: 18826755 | Fulltext

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

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Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, and Seeman P

Journal of human genetics 54(6):365-8, 2009 - Who cited this? | PubMed ID: 19424285 | Fulltext

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): Report from India.

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Nalini A, Gayathri N, Yasha TC, Ravishankar S, Urtizberea A, Huehne K, and Rautenstrauss B

European journal of medical genetics 51(5):426 - Who cited this? | PubMed ID: 18595793 | Fulltext

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

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Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, and Rautenstrauss B

Human mutation 29(9):1147-53, 2008 Sep - Who cited this? | PubMed ID: 18470941 | Fulltext

A family-based investigation of cold pain tolerance.

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Birklein F, Depmeier C, Rolke R, Hansen C, Rautenstrauss B, Prawitt D, and Magerl W

Pain 138(1):111-8, 2008 Aug 15 - Who cited this? | PubMed ID: 18194840 | Fulltext

A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT.

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Baránková L, Sisková D, Hühne K, Vyhnálková E, Sakmaryová I, Bojar M, Rautenstrauss B, and Seeman P

European journal of neurology : the official journal of the European Federation of Neurological Societies 15(6):548-51, 2008 Jun - Who cited this? | PubMed ID: 18410371 | Fulltext

Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

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Brockmann K, Dreha-Kulaczewski S, Dechent P, Bönnemann C, Helms G, Kyllerman M, Brück W, Frahm J, Huehne K, Gärtner J, and Rautenstrauss B

Journal of neurology, 2008 Apr 21 - Who cited this? | PubMed ID: 18425620 | Fulltext

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

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Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, and Rautenstrauss B

Neuromuscular disorders : NMD 18(2):159, 2008 Feb - Who cited this? | PubMed ID: 18077166 | Fulltext

Profiling of WDR36 Missense Variants in German Patients with Glaucoma.

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Pasutto F, Mardin CY, Michels-Rautenstrauss K, Weber BH, Sticht H, Chavarria-Soley G, Rautenstrauss B, Kruse F, and Reis A

Investigative ophthalmology & visual science 49(1):270-4, 2008 Jan - Who cited this? | PubMed ID: 18172102 | Fulltext

Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):545, 2007 Dec - Who cited this? | PubMed ID: 18380017 | Fulltext

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):545-6, 2007 Dec - Who cited this? | PubMed ID: 18380018 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):546, 2007 Dec - Who cited this? | PubMed ID: 18380019 | Fulltext

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):546, 2007 Dec - Who cited this? | PubMed ID: 18380021 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.

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Rautenstrauss B, Huehne K, Kraus C, and Thiel C

Human genetics 122(5):548, 2007 Dec - Who cited this? | PubMed ID: 18380022 | Fulltext

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type X.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):547, 2007 Dec - Who cited this? | PubMed ID: 18380024 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type 1B.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):547, 2007 Dec - Who cited this? | PubMed ID: 18380026 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):547, 2007 Dec - Who cited this? | PubMed ID: 18380028 | Fulltext

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):546, 2007 Dec - Who cited this? | PubMed ID: 18380030 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.

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Rautenstrauss B, Huehne K, Thiel C, and Kraus C

Human genetics 122(5):547, 2007 Dec - Who cited this? | PubMed ID: 18380031 | Fulltext

Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.

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Rautenstrauss B and Huehne K

Human genetics 122(5):556, 2007 Dec - Who cited this? | PubMed ID: 18383612 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

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Rautenstrauss B and Huehne K

Human genetics 122(5):556, 2007 Dec - Who cited this? | PubMed ID: 18383613 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

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Rautenstrauss B and Huehne K

Human genetics 122(5):557, 2007 Dec - Who cited this? | PubMed ID: 18386323 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

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Rautenstrauss B and Huehne K

Human genetics 122(5):557, 2007 Dec - Who cited this? | PubMed ID: 18386324 | Fulltext

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

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Rautenstrauss B and Huehne K

Human genetics 122(5):557, 2007 Dec - Who cited this? | PubMed ID: 18386325 | Fulltext

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.

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Rautenstrauss B and Huehne K

Human genetics 122(5):557, 2007 Dec - Who cited this? | PubMed ID: 18386326 | Fulltext

Novel human pathological mutations. Gene symbol: MPZ. Disease: Dejerine-Sottas syndrome.

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Rautenstrauss B and Huehne K

Human genetics 122(5):558, 2007 Dec - Who cited this? | PubMed ID: 18386328 | Fulltext

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.

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Rautenstrauss B and Huehne K

Human genetics 122(5):558, 2007 Dec - Who cited this? | PubMed ID: 18386329 | Fulltext

Heterologous expression of wildtype and mutant myocilin in High Five insect cells shows comparable effects to cultivated trabecular meshwork cells.

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Oezbey S, Stengel C, Schlötzer-Schrehardt U, Ekici A, and Rautenstrauss B

Biomolecular engineering 24(3):313, 2007 Sep - Who cited this? | PubMed ID: 17597001 | Fulltext

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

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Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS,

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Neuromuscular disorders : NMD 17(8):624, 2007 Aug - Who cited this? | PubMed ID: 17587580 | Fulltext

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

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Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, and Rautenstrauss B

Journal of glaucoma 15(6):499-504, 2006 Dec - Who cited this? | PubMed ID: 17106362 | Fulltext

Identification of Alu elements mediating a partial PMP22 deletion.

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Matejas V, Huehne K, Thiel C, Sommer C, Jakubiczka S, and Rautenstrauss B

Neurogenetics 7(2):119-26, 2006 May - Who cited this? | PubMed ID: 16570190 | Fulltext

Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

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Chavarria-Soley G, Michels-Rautenstrauss K, Pasutto F, Flikier D, Flikier P, Cirak S, Bejjani B, Winters DL, Lewis RA, Mardin C, Reis A, and Rautenstrauss B

Molecular vision 12:523, 2006 - Who cited this? | PubMed ID: 16735994 | Fulltext

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.

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Mikesová E, Hühne K, Rautenstrauss B, Mazanec R, Baránková L, Vyhnálek M, Horácek O, and Seeman P

Neuromuscular disorders : NMD 15(11):764-7, 2005 Nov - Who cited this? | PubMed ID: 16198564 | Fulltext

Glaucoma in Costa Rica. Initial approaches.

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Chavarría-Soley G, Rautenstrauss BI, and Azofeifa J

Revista de biologia tropical 52(3):507-20, 2004 Sep - Who cited this? | PubMed ID: 17361544 | Fulltext

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

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Seeman P, Mazanec R, Huehne K, Suslíková P, Keller O, and Rautenstrauss B

Neurology 63(4):733-5, 2004 Aug 24 - Who cited this? | PubMed ID: 15326256 | Fulltext

A polymorphic locus in the intron 16 of the human angiotensin-converting enzyme (ACE) gene is not correlated with complex regional pain syndrome I (CRPS I).

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Hühne K, Leis S, Schmelz M, Rautenstrauss B, and Birklein F

European journal of pain (London, England) 8(3):221-5, 2004 Jun - Who cited this? | PubMed ID: 15109972 | Fulltext

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.

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Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A, Neundörfer B, Rautenstrauss B, Del Valle G, and Heuss D

Neuromuscular disorders : NMD 14(5):301-6, 2004 May - Who cited this? | PubMed ID: 15099588 | Fulltext

Prospective case control study on genetic assocation of apolipoprotein epsilon2 with intraocular pressure.

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Jünemann A, Bleich S, Reulbach U, Henkel K, Wakili N, Beck G, Rautenstrauss B, Mardin C, Naumann GO, Reis A, and Kornhuber J

The British journal of ophthalmology 88(4):581-2, 2004 Apr - Who cited this? | PubMed ID: 15031182 | Fulltext

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

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Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A,

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American journal of human genetics 73(5):1106, 2003 Nov - Who cited this? | PubMed ID: 14574644 | Fulltext

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.

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Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, and Heuss D

Neurogenetics 4(4):191-7, 2003 Aug - Who cited this? | PubMed ID: 12845552 | Fulltext

A novel myosin heavy chain gene in human chromosome 19q13.3.

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Leal A, Endele S, Stengel C, Huehne K, Loetterle J, Barrantes R, Winterpacht A, and Rautenstrauss B

Gene 312:165-71, 2003 Jul 17 - Who cited this? | PubMed ID: 12909352 | Fulltext

Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin.

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Soley GC, Bosse KA, Flikier D, Flikier P, Azofeifa J, Mardin CY, Reis A, Michels-Rautenstrauss KG, and Rautenstrauss BW

Journal of glaucoma 12(1):27-30, 2003 Feb - Who cited this? | PubMed ID: 12567107 | Fulltext

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

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Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, and Reis A

European journal of human genetics : EJHG 11(2):170-8, 2003 Feb - Who cited this? | PubMed ID: 12634865 | Fulltext

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

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Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, and Rautenstrauss BW

Human mutation 21(1):100, 2003 Jan - Who cited this? | PubMed ID: 12497641 | Fulltext

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