title: Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
authors.affiliation: 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK a.rossor@ucl.ac.uk.
authors.forename: Alexander M
authors.initials: AM
authors.lastname: Rossor
authors.affiliation: 2 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.
authors.forename: Emily C
authors.initials: EC
authors.lastname: Oates
authors.affiliation: 4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
authors.forename: Hannah K
authors.initials: HK
authors.lastname: Salter
authors.affiliation: 4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
authors.forename: Yang
authors.initials: Y
authors.lastname: Liu
authors.affiliation: 5 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.
authors.forename: Sinead M
authors.initials: SM
authors.lastname: Murphy
authors.affiliation: 7 Hertie Institute for Clinical Brain Research and Centre for Neurology, Department of Neurodegenerative Disease, University of Tübingen, 72074 Germany.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Schule
authors.affiliation: 8 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.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Gonzales
authors.affiliation: 9 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
authors.forename: Mariacristina
authors.initials: M
authors.lastname: Scoto
authors.affiliation: 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
authors.forename: Rahul
authors.initials: R
authors.lastname: Phadke
authors.affiliation: 9 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
authors.forename: Caroline A
authors.initials: CA
authors.lastname: Sewry
authors.affiliation: 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.affiliation: 10 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.
authors.forename: Albena
authors.initials: A
authors.lastname: Jordanova
authors.affiliation: 13 Department of Neurology, Medical University-Sofia, Sofia 1000, Bulgaria 14 Department of Cognitive Science and Psychology, New Bulgarian University, Sofia.
authors.forename: Iyailo
authors.initials: I
authors.lastname: Tournev
authors.affiliation: 13 Department of Neurology, Medical University-Sofia, Sofia 1000, Bulgaria.
authors.forename: Teodora
authors.initials: T
authors.lastname: Chamova
authors.affiliation: 15 Clinic of Child Neurology, Department of Paediatrics, Medical University-Sofia, Sofia 1000, Bulgaria.
authors.forename: Ivan
authors.initials: I
authors.lastname: Litvinenko
authors.affiliation: 8 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.
authors.forename: Stephan
authors.initials: S
authors.lastname: Zuchner
authors.affiliation: 16 University of Rochester Medical Centre, Departments of Neurology and Pathology, Rochester, NY, 14642, USA.
authors.forename: David N
authors.initials: DN
authors.lastname: Herrmann
authors.affiliation: 17 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.
authors.forename: Julian
authors.initials: J
authors.lastname: Blake
authors.affiliation: 19 University of Rochester Medical Centre, Department of Neurology, Rochester, NY, 14642, USA.
authors.forename: Janet E
authors.initials: JE
authors.lastname: Sowden
authors.affiliation: 20 Connecticut Children's Medical Centre, Department of Neurology, Hartford Connecticut, 06106, USA.
authors.forename: Gyuda
authors.initials: G
authors.lastname: Acsadi
authors.affiliation: 21 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.
authors.forename: Michael L
authors.initials: ML
authors.lastname: Rodriguez
authors.affiliation: 2 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.
authors.forename: Manoj P
authors.initials: MP
authors.lastname: Menezes
authors.affiliation: 2 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.
authors.forename: Nigel F
authors.initials: NF
authors.lastname: Clarke
authors.affiliation: 23 Division of Orthopaedics, Medical University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.
authors.forename: Michaela
authors.initials: M
authors.lastname: Auer Grumbach
authors.affiliation: 4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
authors.forename: Simon L
authors.initials: SL
authors.lastname: Bullock
authors.affiliation: 1 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.
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.affiliation: 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.affiliation: 2 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.
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000473:pathology*
chemical_list: D008869:Microtubule-Associated Proteins