GGPS1-associated muscular dystrophy with and without hearing

被引：0

作者：

Rocca, Clarissa ^{[1
]}

Kaiyrzhanov, Rauan ^{[1
]}

Zaki, Maha ^{[2
]}

Hosny, Heba ^{[3
]}

Beetz, Christian ^{[4
]}

Movahedinia, Mojtaba ^{[5
]}

Vuillaumier-Barrot, Sandrine ^{[6
]}

Isapof, Arnaud ^{[7
]}

Mehrjardi, Mohammad Yahya Vahidi ^{[8
]}

Ghasemi, Nasrin ^{[8
]}

Whalen, Sandra ^{[9
]}

Houlden, Henry ^{[1
]}

Maroofian, Reza ^{[1
]}

机构：

[1] UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

[2] Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res, Cairo, Egypt

[3] Natl Inst Neuromotor Syst, Dept Genet, Cairo, Egypt

[4] CENTOGENE GmbH, Rostock, Germany

[5] Univ Tehran Med Sci, Pediat Neurol Div, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran

[6] Hop Xavier Bichat, AP HP, Dept Biochem, Paris, France

[7] Sorbonne Univ, Hop Armand Trousseau, APHP, Serv Neurol Pediat, Paris, France

[8] Yazd Shahid Sadoughi Univ Med Sci Campus, Yazd, Iran

[9] Sorbonne Univ, Ctr Reference Anomalies Dev & Syndromes Malformat, Hop Armand Trousseau, APHP,UF Genet Clin,ERN ITHACA, Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

基金：

英国惠康基金;

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P11.028.C

引用

页码：510 / 510

页数：1

共 50 条

[31] MYOTONIC MUSCULAR-DYSTROPHY ASSOCIATED WITH RITODRINE TOCOLYSIS
SHOLL, JS
HUGHEY, MJ
HIRSCHMANN, RA
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1985, 151 (01) : 83 - 86
[32] Cognition Associated with Dystrophin Deletion in Duchenne Muscular Dystrophy
Cho, Soo Kyoung
Moon, Jae Ho
Lee, Sang Chul
Yoo, Tae Won
Ha, Young Ran
Park, Young Bum
Choi, Won Ah
ANNALS OF REHABILITATION MEDICINE-ARM, 2006, 30 (03): : 225 - 229
[33] Familial arachnoid cysts associated with oculopharyngeal muscular dystrophy
Jadeja, KJ
Grewal, RP
JOURNAL OF CLINICAL NEUROSCIENCE, 2003, 10 (01) : 125 - 127
[34] Nuclear changes in muscular dystrophy associated with nuclear envelopathy
Hayashi, Y.
Astejada, M.
Park, Y.
Nonaka, I.
Noguchi, S.
Nishino, I.
NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 799 - 799
[35] DYSTROPHIN-ASSOCIATED PROTEINS IN MUSCULAR-DYSTROPHY
OZAWA, E
YOSHIDA, M
SUZUKI, A
MIZUNO, Y
HAGIWARA, Y
NOGUCHI, S
HUMAN MOLECULAR GENETICS, 1995, 4 : 1711 - 1716
[36] MOLECULAR HETEROGENEITY OF TRANSLOCATIONS ASSOCIATED WITH MUSCULAR-DYSTROPHY
BOYD, Y
MUNRO, E
RAY, P
WORTON, R
MONACO, T
KUNKEL, L
CRAIG, I
CLINICAL GENETICS, 1987, 31 (04) : 265 - 272
[37] Coats’ disease associated with muscular dystrophy treated with ranibizumab
T Diago
B Valls
J S Pulido
Eye, 2010, 24 : 1295 - 1296
[38] Amyloidosis associated with dysferlin-deficient muscular dystrophy
Spuler, Simone
Carl, Miriam
Straub, Volker
Moore, Steven A.
Rocken, Christoph
NEUROLOGY, 2008, 70 (11) : A310 - A310
[39] MENTAL DEFICIENCY ASSOCIATED WITH MUSCULAR DYSTROPHY - A NEUROPATHOLOGICAL STUDY
ROSMAN, NP
KAKULAS, BA
BRAIN, 1966, 89 : 769 - &
[40] CHANGES ASSOCIATED WITH DIETHYLSTILBESTEROL ADMINISTERED TO PATIENTS WITH MUSCULAR DYSTROPHY
COHEN, L
LAWRENCE, A
SCHULMAN, S
DELATORR.F
JELINEK, C
JOURNAL OF LABORATORY AND CLINICAL MEDICINE, 1970, 76 (06): : 1008 - &

← 1 2 3 4 5 →