Publications by authors named "Ingrid Goebel"

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Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1.
Madalena Barroso, Alexandra Puchwein-Schwepcke, Lars Buettner, Ingrid Goebel, Katrin Küchler

J Med Chem· October 2024

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smORFer: a modular algorithm to detect small ORFs in prokaryotes.
Alexander Bartholomäus, Baban Kolte, Ayten Mustafayeva, Ingrid Goebel, Stephan Fuchs

Nucleic Acids Res· September 2021

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Author Correction: Octa-repeat domain of the mammalian prion protein mRNA forms stable A-helical hairpin structure rather than G-quadruplexes.
Andreas Czech, Petr V Konarev, Ingrid Goebel, Dmitri I Svergun, Peter R Wills

Sci Rep· March 2020

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Octa-repeat domain of the mammalian prion protein mRNA forms stable A-helical hairpin structure rather than G-quadruplexes.
Andreas Czech, Petr V Konarev, Ingrid Goebel, Dmitri I Svergun, Peter R Wills

Sci Rep· February 2019

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AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
Ruth Lang-Roth, Eva Fischer-Krall, Cornelia Kornblum, Gudrun Nürnberg, Dieter Meschede, Ingrid Goebel

Audiol Neurootol· September 2018

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Dynamic mA methylation facilitates mRNA triaging to stress granules.
Maximilian Anders, Irina Chelysheva, Ingrid Goebel, Timo Trenkner, Jun Zhou

Life Sci Alliance· August 2018

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Dysfunction of the MDM2/p53 axis is linked to premature aging.
Davor Lessel, Danyi Wu, Carlos Trujillo, Thomas Ramezani, Ivana Lessel, Ingrid Goebel

J Clin Invest· October 2017

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Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Shakeela Daud, Naseebullah Kakar, Ingrid Goebel, Abu Saeed Hashmi, Tahir Yaqub

Amyotroph Lateral Scler Frontotemporal Degener· January 2017

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De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Annemarie Hübers, Walter Just, Angela Rosenbohm, Kathrin Müller, Nicolai Marroquin, Ingrid Goebel

Neurobiol Aging· November 2015

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Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting.
Adrian G Fischer, Tanja Endrass, Ingrid Goebel, Martin Reuter, Christian Montag

Neuroimage· August 2015

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A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.
Rudolf Reiter, Sibylle Brosch, Ingrid Goebel, Kerstin U Ludwig, Anja Pickhard

Am J Med Genet A· March 2015

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A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Naseebullah Kakar, Ingrid Goebel, Shakeela Daud, Gudrun Nürnberg, Noor Agha

Eur J Med Genet· December 2012

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Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Ingrid Goebel

Am J Hum Genet· February 2011

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Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Verneri Anttila, Hreinn Stefansson, Mikko Kallela, Unda Todt, Gisela M Terwindt, Ingrid Goebel

Nat Genet· October 2010

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New genetic evidence for involvement of the dopamine system in migraine with aura.
Unda Todt, Christian Netzer, Mohammad Toliat, Axel Heinze, Ingrid Goebel

Hum Genet· April 2009

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A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
Naheed Sajjad, Ingrid Goebel, Naseebullah Kakar, Abdul Majeed Cheema, Christian Kubisch

BMC Med Genet· November 2008

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Replication study of the insulin receptor gene in migraine with aura.
Christian Netzer, Jan Freudenberg, Axel Heinze, Katja Heinze-Kuhn, Ingrid Goebel

Genomics· June 2008

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Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.
Christian Netzer, Jan Freudenberg, Mohammad R Toliat, Axel Heinze, Katja Heinze-Kuhn, Ingrid Goebel

Am J Med Genet B Neuropsychiatr Genet· January 2008

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MTHFR C677T polymorphism and migraine with aura.
Unda Todt, Jan Freudenberg, Ingrid Goebel, Christian Netzer, Axel Heinze

Ann Neurol· November 2006

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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
Alfredo Ramirez, André Heimbach, Jan Gründemann, Barbara Stiller, Dan Hampshire, Ingrid Goebel

Nat Genet· October 2006

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Haplotype-based systematic association studies of ATP1A2 in migraine with aura.
Christian Netzer, Unda Todt, Axel Heinze, Jan Freudenberg, Vera Zumbroich, Ingrid Goebel, Hartmut Goebel

Am J Med Genet B Neuropsychiatr Genet· April 2006

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Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.
Unda Todt, Martin Dichgans, Karin Jurkat-Rott, Axel Heinze, Giovanni Zifarelli, Ingrid Goebel

Hum Mutat· October 2005

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Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
Christian Kubisch, Uwe-Peter Ketelsen, Ingrid Goebel, Heymut Omran

Ann Neurol· February 2005

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Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.
Alfredo Ramírez, Julia Faupel, Ingrid Goebel, Anne Stiller, Susanne Beyer

Hum Mutat· May 2004

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