De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee; Myriam Srour; Doyoun Kim; Fadi. F. Hamdan; So-Hee Lim; Catherine Brunel-Guitton; Jean-Claude Decarie; Elsa Rossignol; Grant A. Mitchell; Allison Schreiber; Rocio Moran; Keith Van Haren; Randal Richardson; Joost Nicolai; Karin M. E. J. Oberndorff; Justin D. Wagner; Kym M. Boycott; Elisa Rahikkala; Nella Junna; Henna Tyynismaa; Inge Cuppen; Nienke E. Verbeek; Connie T. R. M. Stumpel; Michel A. Willemsen; Sonja A. de Munnik; Guy A. Rouleau; Eunjoon Kim; Erik-Jan Kamsteeg; Tjitske Kleefstra; Jacques L. Michaud

doi:10.1002/humu.22709

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi. F. Hamdan, So-Hee Lim, Catherine Brunel-Guitton, Jean-Claude Decarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber, Rocio Moran, Keith Van Haren, Randal Richardson, Joost Nicolai, Karin M. E. J. Oberndorff, Justin D. Wagner, Kym M. Boycott, Elisa Rahikkala, Nella Junna, Henna TyynismaaInge Cuppen, Nienke E. Verbeek, Connie T. R. M. Stumpel, Michel A. Willemsen, Sonja A. de Munnik, Guy A. Rouleau, Eunjoon Kim, Erik-Jan Kamsteeg, Tjitske Kleefstra, Jacques L. Michaud^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

75 Citations (Web of Science)

Original language	English
Pages (from-to)	69-78
Journal	Human Mutation
Volume	36
Issue number	1
DOIs	https://doi.org/10.1002/humu.22709
Publication status	Published - Jan 2015

Keywords

KIF1A
intellectual disability
spastic paraparesis
axonal neuropathy
de novo mutations

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10.1002/humu.22709

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Lee, J-R., Srour, M., Kim, D., Hamdan, F. F., Lim, S-H., Brunel-Guitton, C., Decarie, J-C., Rossignol, E., Mitchell, G. A., Schreiber, A., Moran, R., Van Haren, K., Richardson, R., Nicolai, J., Oberndorff, K. M. E. J., Wagner, J. D., Boycott, K. M., Rahikkala, E., Junna, N., ... Michaud, J. L. (2015). De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Human Mutation, 36(1), 69-78. https://doi.org/10.1002/humu.22709

Lee, Jae-Ran ; Srour, Myriam ; Kim, Doyoun ; Hamdan, Fadi. F. ; Lim, So-Hee ; Brunel-Guitton, Catherine ; Decarie, Jean-Claude ; Rossignol, Elsa ; Mitchell, Grant A. ; Schreiber, Allison ; Moran, Rocio ; Van Haren, Keith ; Richardson, Randal ; Nicolai, Joost ; Oberndorff, Karin M. E. J. ; Wagner, Justin D. ; Boycott, Kym M. ; Rahikkala, Elisa ; Junna, Nella ; Tyynismaa, Henna ; Cuppen, Inge ; Verbeek, Nienke E. ; Stumpel, Connie T. R. M. ; Willemsen, Michel A. ; de Munnik, Sonja A. ; Rouleau, Guy A. ; Kim, Eunjoon ; Kamsteeg, Erik-Jan ; Kleefstra, Tjitske ; Michaud, Jacques L. / De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. In: Human Mutation. 2015 ; Vol. 36, No. 1. pp. 69-78.

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title = "De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy",

keywords = "KIF1A, intellectual disability, spastic paraparesis, axonal neuropathy, de novo mutations",

author = "Jae-Ran Lee and Myriam Srour and Doyoun Kim and Hamdan, {Fadi. F.} and So-Hee Lim and Catherine Brunel-Guitton and Jean-Claude Decarie and Elsa Rossignol and Mitchell, {Grant A.} and Allison Schreiber and Rocio Moran and {Van Haren}, Keith and Randal Richardson and Joost Nicolai and Oberndorff, {Karin M. E. J.} and Wagner, {Justin D.} and Boycott, {Kym M.} and Elisa Rahikkala and Nella Junna and Henna Tyynismaa and Inge Cuppen and Verbeek, {Nienke E.} and Stumpel, {Connie T. R. M.} and Willemsen, {Michel A.} and {de Munnik}, {Sonja A.} and Rouleau, {Guy A.} and Eunjoon Kim and Erik-Jan Kamsteeg and Tjitske Kleefstra and Michaud, {Jacques L.}",

year = "2015",

month = jan,

doi = "10.1002/humu.22709",

language = "English",

volume = "36",

pages = "69--78",

journal = "Human Mutation",

issn = "1059-7794",

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number = "1",

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Lee, J-R, Srour, M, Kim, D, Hamdan, FF, Lim, S-H, Brunel-Guitton, C, Decarie, J-C, Rossignol, E, Mitchell, GA, Schreiber, A, Moran, R, Van Haren, K, Richardson, R, Nicolai, J, Oberndorff, KMEJ, Wagner, JD, Boycott, KM, Rahikkala, E, Junna, N, Tyynismaa, H, Cuppen, I, Verbeek, NE, Stumpel, CTRM, Willemsen, MA, de Munnik, SA, Rouleau, GA, Kim, E, Kamsteeg, E-J, Kleefstra, T & Michaud, JL 2015, 'De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy', Human Mutation, vol. 36, no. 1, pp. 69-78. https://doi.org/10.1002/humu.22709

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. / Lee, Jae-Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So-Hee; Brunel-Guitton, Catherine; Decarie, Jean-Claude; Rossignol, Elsa; Mitchell, Grant A.; Schreiber, Allison; Moran, Rocio; Van Haren, Keith; Richardson, Randal; Nicolai, Joost; Oberndorff, Karin M. E. J.; Wagner, Justin D.; Boycott, Kym M.; Rahikkala, Elisa; Junna, Nella; Tyynismaa, Henna; Cuppen, Inge; Verbeek, Nienke E.; Stumpel, Connie T. R. M.; Willemsen, Michel A.; de Munnik, Sonja A.; Rouleau, Guy A.; Kim, Eunjoon; Kamsteeg, Erik-Jan; Kleefstra, Tjitske; Michaud, Jacques L.

In: Human Mutation, Vol. 36, No. 1, 01.2015, p. 69-78.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

AU - Lee, Jae-Ran

AU - Srour, Myriam

AU - Kim, Doyoun

AU - Hamdan, Fadi. F.

AU - Lim, So-Hee

AU - Brunel-Guitton, Catherine

AU - Decarie, Jean-Claude

AU - Rossignol, Elsa

AU - Mitchell, Grant A.

AU - Schreiber, Allison

AU - Moran, Rocio

AU - Van Haren, Keith

AU - Richardson, Randal

AU - Nicolai, Joost

AU - Oberndorff, Karin M. E. J.

AU - Wagner, Justin D.

AU - Boycott, Kym M.

AU - Rahikkala, Elisa

AU - Junna, Nella

AU - Tyynismaa, Henna

AU - Cuppen, Inge

AU - Verbeek, Nienke E.

AU - Stumpel, Connie T. R. M.

AU - Willemsen, Michel A.

AU - de Munnik, Sonja A.

AU - Rouleau, Guy A.

AU - Kim, Eunjoon

AU - Kamsteeg, Erik-Jan

AU - Kleefstra, Tjitske

AU - Michaud, Jacques L.

PY - 2015/1

Y1 - 2015/1

KW - KIF1A

KW - intellectual disability

KW - spastic paraparesis

KW - axonal neuropathy

KW - de novo mutations

U2 - 10.1002/humu.22709

DO - 10.1002/humu.22709

M3 - Article

C2 - 25265257

VL - 36

SP - 69

EP - 78

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -