Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Brain

Volumn 138, Issue 2, 2015, Pages 293-310

  Rossor, Alexander M ^a   Oates, Emily C ^b,c   Salter, Hannah K ^d   Liu, Yang ^d   Murphy, Sinead M ^e,f   Schule, Rebecca ^g,h   Gonzalez, Michael A ^h   Scoto, Mariacristina ⁱ   Phadke, Rahul ^a   Sewry, Caroline A ⁱ   Houlden, Henry ^a   Jordanova, Albena ^j,k,l   Tournev, Iyailo ^l,m   Chamova, Teodora ^l   Litvinenko, Ivan ^l   Zuchner, Stephan ^h   Herrmann, David N ⁿ   Blake, Julian ^o,p   Sowden, Janet E ⁿ   Acsadi, Gyuda ^q   Rodriguez, Michael L ^r,s   Menezes, Manoj P ^b,c   Clarke, Nigel F ^b,c   Grumbach, Michaela Auer ^t   Bullock, Simon L ^d   Muntoni, Francesco ^a,i   Reilly, Mary M ^a   North, Kathryn N ^b,c,u,v   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c University of Sydney   (Australia)

^d MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^e ADELAIDE AND MEATH HOSPITAL   (Ireland)

^f TRINITY COLLEGE DUBLIN   (Ireland)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^k UNIVERSITY OF ANTWERP   (Belgium)

^l MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^m NEW BULGARIAN UNIVERSITY   (Bulgaria)

ⁿ UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^o NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^p NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^q Division of Infectious Diseases and Immunology   (United States)

^r SYDNEY LOCAL HEALTH DISTRICT   (Australia)

^s UNIVERSITY OF SYDNEY   (Australia)

^t MEDICAL UNIVERSITY OF VIENNA   (Austria)

^u ROYAL CHILDREN'S HOSPITAL   (Australia)

^v UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

BICD2; Dominant congenital spinal muscular atrophy; Hereditary motor neuropathy; Lower extremity predominant; Proximal spinal muscular atrophy; Spinal muscular atrophy

Indexed keywords

LEUCINE; MUSCLE PROTEIN; PROTEIN BICD2; SERINE; UNCLASSIFIED DRUG; BICD2 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; PROTEIN BINDING;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTHROGRYPOSIS; ARTICLE; BICD2 GENE; CHILD; CHROMOSOME 5Q; CLINICAL ARTICLE; CONGENITAL HIP DISLOCATION; CRYSTAL STRUCTURE; DROSOPHILA MELANOGASTER; DYNC1H1 GENE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MOTONEURON; MUSCLE WEAKNESS; MUTATOR GENE; NEXT GENERATION SEQUENCING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SEMITENDINOUS MUSCLE; SENSORY NERVE; SMN1 GENE; SPINAL MUSCULAR ATROPHY; THIGH; WASTING SYNDROME; YOUNG ADULT; ADOLESCENT; GENETICS; INFANT; MIDDLE AGED; MUTATION; NEWBORN; PATHOLOGY; PEDIGREE; SKELETAL MUSCLE; SPINE;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN BINDING; SPINE; YOUNG ADULT;

EID: 84922380383     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu356     Document Type: Article

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