Publications by authors named "Jutta Becker"

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Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Benedikt Becker, Isabell Cordts, Jutta Becker, Rene Günther, Matthias Baumann

J Neuromuscul Dis· September 2025

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Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation.
Tobias Grass, Zeynep Dokuzluoglu, Felix Buchner, Ines Rosignol, Joshua Thomas, Jutta Becker

Cell Rep Med· August 2024

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Author response: Discrepancy in redetermination of copy numbers in children with SMA.
Janbernd Kirschner, Jutta Becker, David Schorling, Astrid Pechmann, Brunhilde Wirth

Neurology· July 2020

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Discrepancy in redetermination of copy numbers in children with SMA.
David Christof Schorling, Jutta Becker, Astrid Pechmann, Thorsten Langer, Brunhilde Wirth

Neurology· August 2019

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Effects of a Cognitive Training With and Without Additional Physical Activity in Healthy Older Adults: A Follow-Up 1 Year After a Randomized Controlled Trial.
Elke Kalbe, Mandy Roheger, Kay Paluszak, Julia Meyer, Jutta Becker

Front Aging Neurosci· December 2018

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Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III.
Ada Ventzke, Markus Feldkötter, Andrew Wei, Jutta Becker, Bodo B Beck

Pediatr Nephrol· July 2018

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Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.
Ada Ventzke, Markus Feldkötter, Andrew Wei, Jutta Becker, Bodo B Beck

Pediatr Nephrol· December 2017

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A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Walid Fazeli, Peter Herkenrath, Barbara Stiller, Antje Neugebauer, Julia Fricke, Jutta Becker

Hum Mol Genet· October 2017

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CRTAP variants in early-onset osteoporosis and recurrent fractures.
Alice Costantini, Ilkka Vuorimies, Riikka Mäkitie, Mervi K Mäyränpää, Jutta Becker

Am J Med Genet A· March 2017

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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker

Hum Mutat· September 2016

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Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success.
Julia Rahe, Jutta Becker, Gereon R Fink, Josef Kessler, Juraj Kukolja

Front Aging Neurosci· November 2015

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Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Lutz Garbes, Kyungho Kim, Angelika Rieß, Heike Hoyer-Kuhn, Filippo Beleggia, Jutta Becker

Am J Hum Genet· March 2015

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CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Yvonne Schulz, Luisa Freese, Johanna Mänz, Barbara Zoll, Christiane Völter, Jutta Becker

Hum Mol Genet· August 2014

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A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
Heike Hoyer-Kuhn, Oliver Semler, Lutz Garbes, Katharina Zimmermann, Jutta Becker

J Bone Miner Res· June 2014

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Mutations in WNT1 cause different forms of bone fragility.
Katharina Keupp, Filippo Beleggia, Hülya Kayserili, Aileen M Barnes, Magdalena Steiner, Jutta Becker

Am J Hum Genet· April 2013

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A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Oliver Semler, Lutz Garbes, Katharina Keupp, Daniel Swan, Katharina Zimmermann, Jutta Becker

Am J Hum Genet· August 2012

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Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
P V Asharani, Katharina Keupp, Oliver Semler, Wenshen Wang, Yun Li, Jutta Becker

Am J Hum Genet· April 2012

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7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).
Kristin Hofmann, Jutta Becker, Raoul Heller, Odile Boute, Joris Andrieux

Eur J Med Genet· December 2011

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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Jutta Becker, Oliver Semler, Christian Gilissen, Yun Li, Hanno Jörn Bolz

Am J Hum Genet· March 2011

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Anne Michalk, Sigmar Stricker, Jutta Becker, Rosemarie Rupps, Tapio Pantzar

Am J Hum Genet· February 2008

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