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Institution · Friedrich Baur Stiftung

Most cited papers from Friedrich Baur Stiftung

Friedrich Baur Stiftung

What are the most cited papers from Friedrich Baur Stiftung?

The most cited paper from Friedrich Baur Stiftung is "Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1" (Daniel J. Klionsky et al., 2021), with 2,743 citations. Next come "Non-ATG–initiated translation directed by microsatellite expansions" (936) and "Aberrant methylation of tRNAs links cellular stress to neuro‐developmental disorders" (647).

Showing 50 of 60 papers. Every paper with more than 163 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1 Daniel J. Klionsky et al. · Autophagy Open access2,930 authors 2 Jan 2021 2,743
2 Non-ATG–initiated translation directed by microsatellite expansions Tao Zu et al. · Proceedings of the National Academy of Sciences Open access 20 Dec 2010 936
3 Aberrant methylation of tRNAs links cellular stress to neuro‐developmental disorders Sandra Blanco et al. · The EMBO Journal Open access 25 Jul 2014 647
4 A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy Thomas Klopstock, Patrick Yu‐Wai‐Man, Konstantinos A. Dimitriadis et al. · Brain Open access 23 Jul 2011 579
5 Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity Qiuping Zhang, Cornelia Bethmann, Nathalie F. Worth et al. · Human Molecular Genetics Open access 29 Aug 2007 547
6 Increased striatal dopamine transporter in adult patients with attention deficit hyperactivity disorder: effects of methylphenidate as measured by single photon emission computed tomography Klaus-Henning Krause, Stefan H. J. Dresel, Johanna Krause et al. · Neuroscience Letters May 2000 525
7 Mutations in dynamin 2 cause dominant centronuclear myopathy Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet et al. · Nature Genetics Open access 16 Oct 2005 479
8 Multi-system neurological disease is common in patients with OPA1 mutations Patrick Yu‐Wai‐Man et al. · Brain Open access 15 Feb 2010 453
9 Skeletal muscle sonography: a correlative study of echogenicity and morphology Kerstin Reimers, C. D. Reimers, Stephan N. Wagner et al. · Journal of Ultrasound in Medicine Feb 1993 391
10 Delivery of oligonucleotide‐based therapeutics: challenges and opportunities Suzan M. Hammond et al. · EMBO Molecular Medicine Open access 6 Apr 2021 390
11 Rapamycin extends murine lifespan but has limited effects on aging Frauke Neff et al. · Journal of Clinical Investigation Open access 24 Jul 2013 381
12 Gene–environment interactions in Leber hereditary optic neuropathy Matthew Anthony Kirkman, Patrick Yu‐Wai‐Man, Alex Korsten et al. · Brain Open access 12 Jun 2009 363
13 Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number B. Wirth, Lars Brichta, Berthold Schrank et al. · Human Genetics 28 Feb 2006 360
14 Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy Charlotte Fugier et al. · Nature Medicine 29 May 2011 339
15 Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients Rebecca Schüle et al. · Annals of Neurology 9 Feb 2016 323
16 Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome Woranontee Weraarpachai, Hana Antonická, Florin Sasarman et al. · Nature Genetics 7 Jun 2009 316
17 A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy Matthias Vorgerd, Peter F. M. van der Ven, Vera Bruchertseifer et al. · The American Journal of Human Genetics Open access 8 Jul 2005 314
18 Neuron-glia communication via EphA4/ephrin-A3 modulates LTP through glial glutamate transport Alessandro Filosa, Sónia Paixão, Silke D. Honsek et al. · Nature Neuroscience Open access 6 Sep 2009 295
19 Prevalence of sexual dimorphism in mammalian phenotypic traits Natasha A. Karp et al. · Nature Communications Open access202 authors 26 Jun 2017 277
20 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Michaela Auer‐Grumbach et al. · Nature Genetics Open access 27 Dec 2009 272
21 Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis Benedikt G. H. Schoser, Andrew Stewart, Steve Kanters et al. · Journal of Neurology Review 2 Jul 2016 261
22 Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial S. Strothotte, Nicola Strigl‐Pill, Birgit Grunert et al. · Journal of Neurology 31 Jul 2009 259
23 Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Jan Senderek et al. · Nature Genetics 10 Nov 2005 253
24 Differential expression of perforin in muscle-infiltrating T cells in polymyositis and dermatomyositis. Norbert Goebels, Dorothea Michaelis, Mélanie Engelhardt et al. · Journal of Clinical Investigation Open access 15 Jun 1996 252
25 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy Daniele Ghezzi, Paola Goffrini, Graziella Uziel et al. · Nature Genetics 24 May 2009 247
26 Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients Wolfgang Müller‐Felber, Rita Horváth, Klaus E. Gempel et al. · Neuromuscular Disorders 24 Jul 2007 244
27 Polymerase γ Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity Joanna D. Stewart, Rita Horváth, Enrico Baruffini et al. · Hepatology Open access 5 Aug 2010 242
28 Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy Alessandra Moretti et al. · Nature Medicine Open access 27 Jan 2020 241
29 Hot-spot KIF5A mutations cause familial ALS David A. Brenner et al. · Brain Open access 21 Dec 2017 238
30 Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease Cornelia Kornblum et al. · Nature Genetics Open access 13 Jan 2013 238
31 Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy Patrick Yu‐Wai‐Man et al. · Science Translational Medicine Open access 9 Dec 2020 236
32 Risk of developing a mitochondrial DNA deletion disorder Patrick Francis Chinnery, Salvatore DiMauro, Sara Shanske et al. · The Lancet Aug 2004 235
33 High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study Maggie Christine Walter, Hanns Lochmüller, Marcell Toepfer et al. · Journal of Neurology 17 Jan 2000 235
34 Cannabinoid Receptor Type 1 Located on Presynaptic Terminals of Principal Neurons in the Forebrain Controls Glutamatergic Synaptic Transmission Maria Rosaria Domenici, Shahnaz Christina Azad, Giovanni Marsicano et al. · Journal of Neuroscience Open access 24 May 2006 227
35 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy Debbie Hicks et al. · Brain Open access 24 Dec 2010 227
36 Mitochondrial disease in adults: recent advances and future promise Yi Shiau Ng, Laurence Albert Bindoff, Gráinne S. Gorman et al. · The Lancet Neurology Open access 16 Jun 2021 226
37 Trial of Intravenous Immune Globulin in Dermatomyositis Rohit Aggarwal et al. · New England Journal of Medicine Open access 5 Oct 2022 225
38 Muscular ultrasound in idiopathic inflammatory myopathies of adults Carl Detlev Reimers, James L. Fleckenstein, Thomas N. Witt et al. · Journal of the Neurological Sciences May 1993 225
39 Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy Jan Senderek et al. · The American Journal of Human Genetics Open access 24 Oct 2003 215
40 Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data Kathrin Reetz et al. · The Lancet Neurology 4 Jan 2015 213
41 The T102C Polymorphism of the 5-HT2A-Receptor Gene in Fibromyalgia Brigitta Bondy, Michael Spaeth, Martin Offenbäecher et al. · Neurobiology of Disease Open access Oct 1999 197
42 Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing Martin H. Schludi, Bavarian Brain Banking Alliance, Stephanie May et al. · Acta Neuropathologica Open access 17 Jun 2015 194
43 Neuronal 3′,3,5-Triiodothyronine (T 3 ) Uptake and Behavioral Phenotype of Mice Deficient in Mct8 , the Neuronal T 3 Transporter Mutated in Allan–Herndon–Dudley Syndrome Eva Katrin Wirth, Stephan Roth, Cristiane Blechschmidt et al. · Journal of Neuroscience Open access 29 Jul 2009 192
44 Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review António Toscano, Benedikt G. H. Schoser · Journal of Neurology Review 27 Aug 2012 190
45 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing Tobias B. Haack et al. · Journal of Medical Genetics Open access Apr 2012 188
46 The dopamine transporter and neuroimaging in attention deficit hyperactivity disorder Klaus-Henning Krause, Stefan H. J. Dresel, Johanna Krause et al. · Neuroscience & Biobehavioral Reviews Nov 2003 183
47 Myofibrillar Myopathies: A Clinical and Myopathological Guide Rolf Schröder, Benedikt G. H. Schoser · Brain Pathology Open access 10 Jun 2009 180
48 Transcriptional regulator PRDM12 is essential for human pain perception Ya-Chun Chen et al. · Nature Genetics Open access 25 May 2015 179
49 European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience Ans T. van der Ploeg, Michelle E. Kruijshaar, António Toscano et al. · European Journal of Neurology Open access 6 May 2017 178
50 Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle Nikolai Klymiuk et al. · Human Molecular Genetics 19 Jun 2013 177

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.