Gotthold Barbi
Albert Einstein Allee 11
Ulm, BW 89081, Germany
Ulm, BW 89081, Germany
Last Updated: 09/26/2026
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Found 10 publications
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles.
Journal: Science translational medicine
Published: August 30, 2019
Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation.
Journal: Autophagy
Published: April 04, 2019
NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Journal: Stem cell research
Published: January 29, 2018
Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.
Journal: Clinical epigenetics
Published: March 16, 2017
FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons.
Journal: Frontiers in cellular neuroscience
Published: August 18, 2016
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
Journal: American journal of medical genetics. Part A
Published: October 10, 2015
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: March 31, 2015
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Journal: Human genetics
Published: July 31, 2014
Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.
Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.
Journal: Molecular syndromology
Published: July 09, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026