共 2 条
[1]
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder
[J].
Boyle, Lia
;
Rao, Lu
;
Kaur, Simranpreet
;
Fan, Xiao
;
Mebane, Caroline
;
Hamm, Laura
;
Thornton, Andrew
;
Ahrendsen, Jared T.
;
Anderson, Matthew P.
;
Christodoulou, John
;
Gennerich, Arne
;
Shen, Yufeng
;
Chung, Wendy K.
.
HUMAN GENETICS AND GENOMICS ADVANCES,
2021, 2 (02)

Boyle, Lia
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Rao, Lu
论文数: 0 引用数: 0
h-index: 0
机构:
Albert Einstein Coll Med, Dept Anat & Struct Biol, Bronx, NY 10461 USA
Albert Einstein Coll Med, Gruss Lipper Biophoton Ctr, Bronx, NY 10461 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Kaur, Simranpreet
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Murdoch Childrens Res Inst, Dept Pediat, Melbourne, Vic 3052, Australia Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Fan, Xiao
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA
Columbia Univ, Dept Syst Biol, Irving Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Mebane, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Hamm, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Genet & Genom Sci, New York, NY 10029 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Thornton, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Vagelos Coll Phys & Surg, New York, NY 10032 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Ahrendsen, Jared T.
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Pathol, Boston, MA 02215 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Anderson, Matthew P.
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Pathol, Boston, MA 02215 USA
Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USA
Boston Childrens Hosp, Intellectual & Dev Disabil Res Ctr, 300 Longwood Ave, Boston, MA 02115 USA
Harvard Med Sch, Program Neurosci, 300 Longwood Ave, Boston, MA 02115 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

论文数: 引用数:
h-index:
机构:

Gennerich, Arne
论文数: 0 引用数: 0
h-index: 0
机构:
Albert Einstein Coll Med, Dept Anat & Struct Biol, Bronx, NY 10461 USA
Albert Einstein Coll Med, Gruss Lipper Biophoton Ctr, Bronx, NY 10461 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Shen, Yufeng
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Syst Biol, Irving Med Ctr, New York, NY 10032 USA
Columbia Univ, Dept Biomed Informat, Irving Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA

Chung, Wendy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA
Columbia Univ, Dept Med, Irving Med Ctr, New York, NY 10032 USA Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10032 USA
[2]
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
[J].
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.
.
HUMAN MUTATION,
2015, 36 (01)
:69-78

Lee, Jae-Ran
论文数: 0 引用数: 0
h-index: 0
机构:
Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Srour, Myriam
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Kim, Doyoun
论文数: 0 引用数: 0
h-index: 0
机构:
Inst for Basic Sci Korea, Ctr Synapt Brain Dysfunct, Taejon, South Korea Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Hamdan, Fadi. F.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Lim, So-Hee
论文数: 0 引用数: 0
h-index: 0
机构:
Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Brunel-Guitton, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Decarie, Jean-Claude
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Dept Med Imaging, Montreal, PQ, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Rossignol, Elsa
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Mitchell, Grant A.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Schreiber, Allison
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Moran, Rocio
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Van Haren, Keith
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Neurol, Lucile Packard Childrens Hosp, Div Child Neurol, Stanford, CA 94305 USA Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Richardson, Randal
论文数: 0 引用数: 0
h-index: 0
机构:
Gillette Childrens Specialty Healthcare, St Paul, MN USA Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Nicolai, Joost
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Dept Neurol, Med Ctr, Maastricht, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Oberndorff, Karin M. E. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Orbis Med Ctr, Sittard, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Wagner, Justin D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Boycott, Kym M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Rahikkala, Elisa
论文数: 0 引用数: 0
h-index: 0
机构:
Oulu Univ Hosp, Dept Clin Genet, Med Res Ctr, Oulu, Finland
Univ Oulu, Oulu, Finland Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Junna, Nella
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Res Programs Unit, Helsinki, Finland Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Tyynismaa, Henna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Res Programs Unit, Helsinki, Finland Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Cuppen, Inge
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Neurol, Utrecht, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Verbeek, Nienke E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Stumpel, Connie T. R. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands
Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol GROW, Maastricht, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Willemsen, Michel A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Pediat Neurol, Nijmegen, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

de Munnik, Sonja A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Rouleau, Guy A.
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Kim, Eunjoon
论文数: 0 引用数: 0
h-index: 0
机构:
Inst for Basic Sci Korea, Ctr Synapt Brain Dysfunct, Taejon, South Korea
Korea Adv Inst Sci & Technol, Dept Biol Sci, Taejon 305701, South Korea Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Kamsteeg, Erik-Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Kleefstra, Tjitske
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea

Michaud, Jacques L.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada Korea Res Inst Biosci & Biotechnol, Biomed Prote Res Ctr, Taejon, South Korea
