ArticleBrain : a journal of neurology2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
Open access · bronzeAbstract readLetterComment
In one paragraph
Article in Brain : a journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.0field-weighted citation impact, top 22% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed, 7 citations in OpenAlex.
- A novelIntractable & rare diseases research · 2021Article
Corrections and comments
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Authors and funding
28 authors at 16 institutions in 8 countries.
Alexander M Rossor1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK a.rossor@ucl.ac.uk.
Emily C Oates2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia.
Hannah K Salter4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
Yang Liu4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
Sinead M Murphy5 Department of Neurology, Adelaide and Meath Hospitals Incorporating the National Children's Hospital, Tallaght, Dublin, Ireland 6 Academic Unit of Neurology, Trinity College Dublin, Ireland.
Rebecca Schule7 Hertie Institute for Clinical Brain Research and Centre for Neurology, Department of Neurodegenerative Disease, University of Tübingen, 72074 Germany.
Michael A Gonzales8 Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.
Mariacristina Scoto9 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
Rahul Phadke1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
Caroline A Sewry9 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
Henry Houlden1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
Albena Jordanova10 Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, Antwerp 2610, Belgium 11 Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium 12 Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Sofia 1431, Bulgaria.
Iyailo Tournev13 Department of Neurology, Medical University-Sofia, Sofia 1000, Bulgaria 14 Department of Cognitive Science and Psychology, New Bulgarian University, Sofia.
Teodora Chamova13 Department of Neurology, Medical University-Sofia, Sofia 1000, Bulgaria.
Ivan Litvinenko15 Clinic of Child Neurology, Department of Paediatrics, Medical University-Sofia, Sofia 1000, Bulgaria.
Stephan Zuchner8 Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.
David N Herrmann16 University of Rochester Medical Centre, Departments of Neurology and Pathology, Rochester, NY, 14642, USA.
Julian Blake17 Department of Clinical Neurophysiology, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK 18 Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, UK.
Janet E Sowden19 University of Rochester Medical Centre, Department of Neurology, Rochester, NY, 14642, USA.
Gyuda Acsadi20 Connecticut Children's Medical Centre, Department of Neurology, Hartford Connecticut, 06106, USA.
Michael L Rodriguez21 Department of Forensic Medicine, Sydney Local Health District, New South Wales, 2037, Australia 22 Discipline of Pathology, Sydney Medical School, The University of Sydney, Sydney, New South Wales, 2006, Australia.
Manoj P Menezes2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia.
Nigel F Clarke2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia.
Michaela Auer Grumbach23 Division of Orthopaedics, Medical University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.
Simon L Bullock4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
Francesco Muntoni1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK 9 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
Mary M Reilly1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
Kathryn N North2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.
University College London · GBChildren's Hospital at Westmead · AUMRC Laboratory of Molecular Biology · GBMedical University of Sofia · BGUniversity of Rochester Medical Center · USDr. John T. Macdonald Foundation · USHartford Financial Services (United States)Hertie Institute for Clinical Brain Research · DEMedical University of Vienna · ATNational Hospital for Neurology and Neurosurgery · GBNew Bulgarian University · BGTallaght University Hospital · IEUniversity of Melbourne · AUUniversity of Miami · USUniversity of Sydney · AUVIB-UAntwerp Center for Molecular Neurology · BE
Funding
Genomic Studies in Charcot-Marie-Tooth DiseaseR01NS075764 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2012 to 2016
$3.0MAustrian Science Fund FWF P 27634Medical Research Council G0802760Medical Research Council G1000848Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MC_U105178790Medical Research Council MR/J004758/1NINDS NIH HHS R01 NS075764
Abstract
PubMed holds no abstract for this paper.
Indexed as
FemaleHumansMaleMicrotubule-Associated ProteinsMuscular Atrophy, SpinalMicrotubule-Associated Proteins
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.