De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy

Human Mutation

Volumn 36, Issue 1, 2015, Pages 69-78

  Lee, Jae Ran ^a   Srour, Myriam ^b   Kim, Doyoun ^c   Hamdan, Fadi F ^b   Lim, So Hee ^a   Brunel Guitton, Catherine ^b   Décarie, Jean Claude ^b   Rossignol, Elsa ^b,d   Mitchell, Grant A ^b,d   Schreiber, Allison ^e   Moran, Rocio ^e   Van Haren, Keith ^f   Richardson, Randal ^g   Nicolai, Joost ^h   Oberndorff, Karin M E J ⁱ   Wagner, Justin D ^j   Boycott, Kym M ^j   Rahikkala, Elisa ^k   Junna, Nella ^l   Tyynismaa, Henna ^l   Cuppen, Inge ^m   Verbeek, Nienke E ^m   Stumpel, Connie T R M ⁿ   Willemsen, Michel A ^o   de Munnik, Sonja A ^o   Rouleau, Guy A ^p   Kim, Eunjoon ^c,q   Kamsteeg, Erik Jan ^o   Kleefstra, Tjitske ^o   Michaud, Jacques L ^b,d   more..

^a Korea Research Institute of Bioscience and Biotechnology (KRIBB)   (South Korea)

^b UNIVERSITY OF MONTREAL   (Canada)

^c Institute for Basic Science   (South Korea)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

^e LERNER RESEARCH INSTITUTE   (United States)

^f STANFORD UNIVERSITY   (United States)

^g GILLETTE CHILDREN'S SPECIALTY HEALTHCARE   (United States)

^h MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ Zuyderland Medical Centre   (Netherlands)

^j CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^k OULU UNIVERSITY HOSPITAL   (Finland)

^l UNIVERSITY OF HELSINKI   (Finland)

^m UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

ⁿ MAASTRICHT UNIVERSITY   (Netherlands)

^o RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^p MCGILL UNIVERSITY   (Canada)

^q Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

more..

Author keywords

Axonal neuropathy; De novo mutations; Intellectual disability; KIF1A; Spastic paraparesis

Indexed keywords

KIF1A PROTEIN, HUMAN; KINESIN;

ADOLESCENT; ADULT; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; COGNITIVE DEFECT; EPILEPSY; GENETICS; HUMAN; MALE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NEUROPATHY; PATHOLOGY; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE; SPASTIC PARAPLEGIA; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; EPILEPSY; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; KINESIN; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PARAPARESIS, SPASTIC; PERIPHERAL NERVOUS SYSTEM DISEASES; PROTEIN STRUCTURE, TERTIARY; YOUNG ADULT;

EID: 84920091648     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22709     Document Type: Article

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