Autosomal recessive mutations of GPR126 are responsible for severe Arthrogryposis multiplex congenita

被引：0

作者：

Ravenscroft, G. ^{[1
]}

Nolen, F. ^{[2
]}

Rajagopalan, S. ^{[3
]}

Meireles, A. ^{[4
]}

Paavola, K. ^{[4
]}

Gaillard, D. ^{[5
]}

Alanio, E. ^{[5
]}

Buckland, M. ^{[6
]}

Arbuckle, S. ^{[7
]}

Krivanek, M. ^{[7
]}

Maluenda, J. ^{[2
]}

Pannell, S. ^{[1
]}

Gooding, R. ^{[8
]}

Ong, R. ^{[1
]}

Allcock, R. ^{[9
]}

Kok, F. ^{[10
]}

Talbot, W. ^{[11
]}

Melki, J. ^{[2
]}

Laing, N. ^{[1
]}

机构：

[1] Harry Perkins Inst Med Res, Nedlands, WA, Australia

[2] Univ Paris South, Unite Mixte Rech, Le Kremlin Bicetre, France

[3] Liverpool Hosp, Dept Clin Genet, Liverpool, NSW, Australia

[4] Stanford Univ, Dept Dev Biol, Stanford, CA 94305 USA

[5] Pol Bouin Lab, Reims, France

[6] Brain & Mind Res Inst, Sydney, NSW, Australia

[7] Childrens Hosp Westmead, Pathol, Westmead, NSW, Australia

[8] Dept Diagnost Genom, PathWest Lab Med, Nedlands, WA, Australia

[9] Univ Western Australia, Lotterywest State Biomed Facil Genom, Nedlands, WA 6009, Australia

[10] Univ Sao Paulo, Human Genome & Stem Cell Res Ctr, Biosci Inst, Sao Paulo, Brazil

[11] Stanford Univ, Dept Clin Genet, Stanford, CA 94305 USA

来源：

NEUROMUSCULAR DISORDERS | 2015年 / 25卷

关键词：

D O I：

10.1016/j.nmd.2015.06.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

G.O.4

引用

页码：S186 / S186

页数：1

共 50 条

[21] Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
Xue, Shifeng
Maluenda, Jerome
Marguet, Florent
Shboul, Mohammad
Quevarec, Loic
Bonnard, Carine
Ng, Alvin Yu Jin
Tohari, Sumanty
Thong Teck Tan
Kong, Mung Kei
Monaghan, Kristin G.
Cho, Megan T.
Siskind, Carly E.
Sampson, Jacinda B.
Rocha, Carolina Tesi
Alkazaleh, Fawaz
Gonzales, Marie
Rigonnot, Luc
Whalen, Sandra
Gut, Marta
Gut, Ivo
Bucourt, Martine
Venkatesh, Byrappa
Laquerriere, Annie
Reversade, Bruno
Melki, Judith
AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (04) : 659 - 665
[22] Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations
Booth, Daniel G.
Kozar, Nina
Bradley, Stephen
Meijer, Dies
GLIA, 2021, 69 (11) : 2605 - 2617
[23] IMPROVING ARM FUNCTION BY PROSTHETIC LIMB REPLACEMENT IN A PATIENT WITH SEVERE ARTHROGRYPOSIS MULTIPLEX CONGENITA
Salminger, Stefan
Roche, Aidan D.
Sturma, Agnes
Hruby, Laura A.
Aszmann, Oskar C.
JOURNAL OF REHABILITATION MEDICINE, 2016, 48 (08) : 725 - 728
[24] Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
Bryen, Samantha J.
Ewans, Lisa J.
Pinner, Jason
MacLennan, Suzanna C.
Donkervoort, Sandra
Castro, Diana
Topf, Ana
O'Grady, Gina
Cummings, Beryl
Chao, Katherine R.
Weisburd, Ben
Francioli, Laurent
Faiz, Fathimath
Bournazos, Adam M.
Hu, Ying
Grosmann, Carla
Malicki, Denise M.
Doyle, Helen
Witting, Nanna
Vissing, John
Claeys, Kristl G.
Urankar, Kathryn
Beleza-Meireles, Ana
Baptista, Julia
Ellard, Sian
Savarese, Marco
Johari, Mridul
Vihola, Anna
Udd, Bjarne
Majumdar, Anirban
Straub, Volker
Bonnemann, Carsten G.
MacArthur, Daniel G.
Davis, Mark R.
Cooper, Sandra T.
HUMAN MUTATION, 2020, 41 (02) : 403 - 411
[25] Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita
Fukumura, Shinobu
Ohba, Chihiro
Watanabe, Toshihide
Minagawa, Kimio
Shimura, Masaru
Murayama, Kei
Ohtake, Akira
Saitsu, Hirotomo
Matsumoto, Naomichi
Tsutsumi, Hiroyuki
JOURNAL OF HUMAN GENETICS, 2015, 60 (09) : 509 - 513
[26] Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita
Shinobu Fukumura
Chihiro Ohba
Toshihide Watanabe
Kimio Minagawa
Masaru Shimura
Kei Murayama
Akira Ohtake
Hirotomo Saitsu
Naomichi Matsumoto
Hiroyuki Tsutsumi
Journal of Human Genetics, 2015, 60 : 509 - 513
[27] FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Doyard, Mathilde
Bacrot, Severine
Huber, Celine
Di Rocco, Maja
Goldenberg, Alice
Aglan, Mona S.
Brunelle, Perrine
Temtamy, Samia
Michot, Caroline
Otaify, Ghada A.
Haudry, Coralie
Castanet, Mireille
Leroux, Julien
Bonnefont, Jean-Paul
Munnich, Arnold
Baujat, Genevieve
Lapunzina, Pablo
Monnot, Sophie
Ruiz-Perez, Victor L.
Cormier-Daire, Valerie
JOURNAL OF MEDICAL GENETICS, 2018, 55 (04) : 278 - 284
[28] Prenatal Sonographic Detection of Multiple Congenital Anomalies: A Case of Severe Arthrogryposis Multiplex Congenita (AMC)
Bildner, Amy
Jackson, Daniel
JOURNAL OF DIAGNOSTIC MEDICAL SONOGRAPHY, 2018, 34 (02) : 138 - 145
[29] The syndrome of congenital hypotonia, severe sensory neuropathy and arthrogryposis multiplex congenita: A new nosologic entity?
Jorden, MA
Horoupian, DS
Koukkari, M
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2002, 61 (05): : 468 - 468
[30] Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice
Jacobson, L
Polizzi, A
Morriss-Kay, G
Vincent, A
JOURNAL OF CLINICAL INVESTIGATION, 1999, 103 (07): : 1031 - 1038

← 1 2 3 4 5 →