A NOVEL HETEROZYGOUS MUTATION IN THE TRPV4 GENE SEGREGATING IN A FAMILY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

被引：0

作者：

Avventura, Stefano ^{[1
]}

Magri, Stefania ^{[2
]}

Balistreri, Francesca ^{[2
]}

Bevilacqua, Liliana ^{[1
]}

De Biasi, Giuseppe ^{[1
]}

Toriello, Antonella ^{[3
]}

Iovino, Aniello ^{[3
]}

Barone, Paolo ^{[1
]}

Vinciguerra, Claudia ^{[3
]}

Landolfi, Annamaria ^{[1
]}

Piscosquito, Giuseppe ^{[3
]}

机构：

[1] Univ Salerno, Neurosci Sect, Dept Med Surg & Dent, Scuola Med Salernitana, Baronissi, Italy

[2] IRCCS Fdn Carlo Besta Neurol Inst, Unit Med Genet & Neurogenet Med Genet & Neurogene, Milan, Italy

[3] Univ Hosp San Giovanni Dio & Ruggi Aragona, Neurol Unit, Salerno, Italy

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2023年 / 28卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：S6 / S6

页数：1

共 50 条

[31] A novel mutation of the myelin Po gene segregating Charcot-Marie-Tooth disease type 1B manifesting as trigeminal nerve thickening
Shizuka, M
Ikeda, Y
Watanabe, M
Okamoto, K
Shoji, M
Ikegami, T
Hayasaka, K
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 67 (02) : 250 - 251
[32] Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease
Phuong-Thao Mai
Dong-Truc Le
Tan-Trung Nguyen
Hoang-Linh Le Gia
Trung-Hieu Nguyen Le
Minh Le
Duc-Minh Do
BIOMED RESEARCH INTERNATIONAL, 2019, 2019
[33] A Novel SPG11 mutation causing Charcot-Marie-Tooth Disease Type 2
Sanghani, Nirav
Maybodi, Leila
Souayah, Nizar
NEUROLOGY, 2020, 94 (15)
[34] Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
Marrosu, MG
Vaccargiu, S
Marrosu, G
Vannelli, A
Cianchetti, C
Muntoni, F
NEUROLOGY, 1998, 50 (05) : 1397 - 1401
[35] Novel Compound Heterozygous Mutation of SH3TC2 in Patients with Charcot-Marie-Tooth Disease
Zingariello, Carla
Lalor, Kathryn
Castoro, Ryan
Li, Jun
Simmons, Megan
NEUROLOGY, 2017, 88
[36] COMPOUND HETEROZYGOUS MUTATION IN SGPL1 CAUSES AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2 IN A SERBIAN FAMILY
Atkinson, D.
Asselbergs, B.
De Vriendt, E.
Ooms, T.
Estrada-Cuzcano, A.
Nikodinovic, J.
Milic-Rasic, V
Jordanova, A.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 233 - 233
[37] A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease
Zhao, Guohua
Song, Jie
Yang, Mi
Song, Xiuhua
Liu, Xiaomin
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 (01) : 55 - 59
[38] A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease
Wang, Xing
Han, Chunmao
Liu, Wenqiang
Wang, Ping
Zhang, Xianqin
GENE, 2014, 534 (02) : 431 - 434
[39] PHENOTYPIC CHARACTERIZATION OF CHARCOT-MARIE-TOOTH DISEASE TYPE 2 ASSOCIATED TO A NOVEL DYNAMIN 2 MUTATION
Berciano, J.
Gallardo, E.
Garcia, A.
Claeys, K. G.
Nelis, E.
Canga, A.
Combarros, O.
Timmerman, V
De Jonghe, P.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2009, 14 : 16 - 16
[40] Phenotypic characterisation of Charcot-Marie-Tooth disease type 2 associated to a novel dynamin 2 mutation
Berciano, J.
Gallardo, E.
Claeys, K.
Garcia, A.
Canga, A.
Combarros, O.
Timmerman, V.
De Jonghe, P.
JOURNAL OF NEUROLOGY, 2008, 255 : 14 - 14

← 1 2 3 4 5 →