Works matching DE "NONSENSE mutation"

Results: 1138

Extensive sclerotic skin involvement in Erdheim–Chester disease.

Published in:

QJM: An International Journal of Medicine, 2025, v. 118, n. 4, p. 291, doi. 10.1093/qjmed/hcae248

By:

Xia, Yi-Jun;
Feng, Cheng;
Wang, Zhi;
Cao, Xin-Xin

Publication type:

Article

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1695, doi. 10.1093/brain/awae358

By:

Gorgoglione, Domenico;
Sabbatini, Daniele;
Riguzzi, Pietro;
Capece, Giuliana;
Pane, Marika;
Servidei, Serenella;
Briganti, Marta;
Sancricca, Cristina;
Bruschi, Fabio;
Ardissone, Anna;
Masson, Riccardo;
Gallone, Annamaria;
Maggi, Lorenzo;
Picillo, Esther;
Politano, Luisa;
Petrosino, Angela;
Vianello, Sara;
Penzo, Martina;
Villa, Matteo;
Sframeli, Maria

Publication type:

Article

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00313-3

By:

Miura, Shiroh;
Suenaga, Seria;
Goto, Hana;
Wang, Zhaonan;
Makino, Akane;
Fan, Luoming;
Senzaki, Kensuke;
Ochi, Masayuki;
Ohyagi, Yasumasa;
Shibata, Hiroki

Publication type:

Article

Advancing Therapeutic Strategies for Nonsense‐Related Diseases: From Small Molecules to Nucleic Acid‐Based Innovations.

Published in:

IUBMB Life, 2025, v. 77, n. 5, p. 1, doi. 10.1002/iub.70027

By:

Ricci, Davide;
Cruciata, Ilenia;
Fiduccia, Ignazio;
Vitale, Emanuele;
Corrao, Federica;
Branchini, Alessio;
Carollo, Pietro Salvatore;
Pibiri, Ivana;
Lentini, Laura

Publication type:

Article

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 209, doi. 10.1007/s10048-005-0013-1

By:

Carmo Costa, Maria;
Costa, Cristina;
Silva, Ana Paula;
Evangelista, Pedro;
Santos, Luís;
Ferro, Anabela;
Sequeiros, Jorge;
Maciel, Patrícia

Publication type:

Article

Novel PATL2 variants cause female infertility with oocyte maturation defect.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 8, p. 1965, doi. 10.1007/s10815-024-03150-5

By:

Hu, Hua-ying;
Zhang, Ge-han;
Deng, Wei-fen;
Wei, Tian-ying;
Feng, Zhan-ke;
Li, Cun-xi;
Li, Song jun;
Liu, Jia-en;
Tian, Ya-ping

Publication type:

Article

A novel ADGRG2 truncating variant associated with X-linked obstructive azoospermia in a large Chinese pedigree.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 7, p. 1747, doi. 10.1007/s10815-023-02839-3

By:

Lu, Yinghong;
Xie, Yuling;
Li, Mei;
Zuo, Na;
Ning, Sisi;
Luo, Bowen;
Ning, Minxia;
Song, Jujie;
Liang, Yi;
Qin, Yunrong

Publication type:

Article

A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 6, p. 1459, doi. 10.1007/s10815-021-02136-x

By:

Wang, Jing;
Yang, Xiaoyu;
Sun, Xueping;
Ma, Long;
Yin, Yaoxue;
He, Guoxiang;
Zhang, Yuan;
Zhou, Jie;
Cai, Lingbo;
Liu, Jiayin;
Ma, Xiang

Publication type:

Article

Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 9, p. 2159, doi. 10.1007/s10815-020-01859-7

By:

Sun, Minghan;
Zhang, Yi;
JiyunYang;
Wang, Yi;
Tan, Hao;
Wang, Hailian;
Lei, Tiantian;
Li, Xiaojie;
Zhang, Xiaojian;
Xiong, Wen;
Dou, Ke;
Ma, Yongxin

Publication type:

Article

Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 6, p. 1441, doi. 10.1007/s10815-020-01786-7

By:

Zhu, Lixia;
Xiao, Nan;
Zhang, Tao;
Kong, Pingping;
Xu, Bei;
Fang, Zishui;
Jin, Lei

Publication type:

Article

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #597 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/597.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9126

By:

Mercedes Duran;
Eva Esteban-Cardeñosa;
Eladio Velasco;
Mar Infante;
Cristina Miner

Publication type:

Article

A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #591 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/591.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9120

By:

Paula M. Hempen;
Harsha Kurpad;
Eric S. Calhoun;
Susan Abraham

Publication type:

Article

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #599 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128

By:

Chi Hwa Kim;
Hye Zin Hwang;
Seng Mi Song;
Kyung Hoon Paik;
Eun Kyung Kwon;
Kwang Bin Moon;
Jeong Hyeok Yoon;
Cheol Kyu Han

Publication type:

Article

Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #596 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125

By:

Mauro D'Amato;
Margherita Bonuglia;
Simona Barile;
Daniela Griso;
Annelisa Macri;
Gianfranco Biolcati

Publication type:

Article

Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #590 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/590.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 444, doi. 10.1002/humu.9119

By:

A. Esra Manguoǧlu;
Güven Lüleci;
Tayfun Özçelik;
Taner Çolak;
Hagit Schayek;
Mustafa Akaydın;
Eitan Friedman

Publication type:

Article

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset (Communicated by Arnold Munnich) Online Citation: Human Mutation, Mutation in Brief #589 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/589.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 444

By:

J. Häberle;
E. Schmidt;
S. Pauli;
B. Rapp;
E. Christensen;
B. Wermuth;
H.G. Koch

Publication type:

Article

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #603 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/603.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 451, doi. 10.1002/humu.9132

By:

Katsunori Fujii;
Yoichi Kohno;
Katsuo Sugita;
Mihoko Nakamura;
Yoichi Moroi;
Kazunori Urabe;
Masutaka Furue;
Masao Yamada;
Toshiyuki Miyashita

Publication type:

Article

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #599 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/599.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 449, doi. 10.1002/humu.9128

By:

Chi Hwa Kim;
Hye Zin Hwang;
Seng Mi Song;
Kyung Hoon Paik;
Eun Kyung Kwon;
Kwang Bin Moon;
Jeong Hyeok Yoon;
Cheol Kyu Han;
Dong?Kyu Jin

Publication type:

Article

Identification of seven novel mutations in the GAN geneCommunicated by Jacques BeckmannOnline Citation: Human Mutation, Mutation in Brief #593 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/593.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9122

By:

P. Bomont;
C. Ioos;
C. Yalcinkaya;
R. Korinthenberg;
JM. Vallat;
S. Assami;
A. Munnich;
B. Chabrol;
G. Kurlemann;
M. Tazir;
M. Koenig

Publication type:

Article

Identification of six novel MSH2 and MLH1 germline mutations in HNPCCCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #592 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/592.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9121

By:

Stefan Krüger;
Jens Plaschke;
Birgit Jeske;
Heike Görgens;
Steffen R. Pistorius;
Andrea Bier;
Friedmar R. Kreuz;
Franz Theissig;
Daniela E. Aust;
Hans D. Saeger;
Hans K. Schackert

Publication type:

Article

A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766TCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #591 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/591.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 445, doi. 10.1002/humu.9120

By:

Paula M. Hempen;
Harsha Kurpad;
Eric S. Calhoun;
Susan Abraham;
Scott E. Kern

Publication type:

Article

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onsetCommunicated by Arnold MunnichOnline Citation: Human Mutation, Mutation in Brief #589 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/589.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 444

By:

J. Häberle;
E. Schmidt;
S. Pauli;
B. Rapp;
E. Christensen;
B. Wermuth;
H.G. Koch

Publication type:

Article

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short statureCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 424, doi. 10.1002/humu.10168

By:

David S. Millar;
Mark D. Lewis;
Martin Horan;
Vicky Newsway;
Tammy E. Easter;
John W. Gregory;
Linda Fryklund;
Martin Norin;
Elizabeth C. Crowne;
Sally J. Davies;
Phillip Edwards;
Jeremy Kirk;
Kim Waldron;
Patricia J. Smith;
John A. Phillips;
Maurice F. Scanlon;
Michael Krawczak;
David N. Cooper;
Annie M. Procter

Publication type:

Article

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.

Published in:

Osteoporosis International, 2024, v. 35, n. 8, p. 1395, doi. 10.1007/s00198-024-07080-x

By:

Ren, Na;
Lv, Shanshan;
Li, Xiang;
Shao, Chong;
Wang, Ziyuan;
Mei, Yazhao;
Yang, Wendi;
Fu, Wenzhen;
Hu, Yunqiu;
Sha, Ling;
Hu, Weiwei;
Zhang, Zhenlin;
Wang, Chun

Publication type:

Article

Hypophosphatasia: Canadian update on diagnosis and management.

Published in:

Osteoporosis International, 2019, v. 30, n. 9, p. 1713, doi. 10.1007/s00198-019-04921-y

By:

Khan, A.A.;
Josse, R.;
Kannu, P.;
Villeneuve, J.;
Paul, T.;
Van Uum, S.;
Greenberg, C.R.

Publication type:

Article

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.

Published in:

NPJ Precision Oncology, 2025, v. 9, n. 1, p. 1, doi. 10.1038/s41698-025-00864-2

By:

Yang, Mengyuan;
Zhang, Ding;
Yuan, Zhijun;
Chen, Daici;
Ju, Haixing;
Wu, Bin;
Pan, Jie;
Gu, Guoli;
Cui, Yuehong;
Gu, Yanhong;
Xu, Dong;
Yuan, Ying

Publication type:

Article

Enhancing the quality of panel-based tumor mutation burden assessment: a comprehensive study of real-world and in-silico outcomes.

Published in:

NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00504-1

By:

Zhang, Yuanfeng;
Wang, Duo;
Zhao, Zihong;
Peng, Rongxue;
Han, Yanxi;
Li, Jinming;
Zhang, Rui

Publication type:

Article

Correction: A nonsense germline mutation in the LPL gene in a 1-month-old infant: case report with review of literature.

Published in:

2023

By:

Pawal, Pratibha;
Aute, Tukaram

Publication type:

Correction Notice

A nonsense germline mutation in the LPL gene in a 1-month-old infant: case report with review of literature.

Published in:

Bulletin of the National Research Centre, 2023, v. 47, n. 1, p. 1, doi. 10.1186/s42269-023-00991-5

By:

Pawal, Pratibla;
Aute, Tukaram

Publication type:

Article

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Published in:

2025

By:

Xiong, Sujie;
Hu, Guangyao;
Zhou, Yao;
Sun, Fei;
Ma, Yanlin

Publication type:

Case Study

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Published in:

Hereditas, 2022, v. 159, n. 1, p. 1, doi. 10.1186/s41065-022-00224-1

By:

Abtahi, Rezvan;
Karimzadeh, Parvaneh;
Aryani, Omid;
Akbarzadeh, Diba;
Salehpour, Shadab;
Rezayi, Alireza;
Tonekaboni, Seyed Hassan;
Emameh, Reza Zolfaghari;
Houshmand, Massoud

Publication type:

Article

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 146, doi. 10.3390/jcm9010146

By:

Kataoka, Hiroshi;
Fukuoka, Hinata;
Makabe, Shiho;
Yoshida, Rie;
Teraoka, Atsuko;
Ushio, Yusuke;
Akihisa, Taro;
Manabe, Shun;
Sato, Masayo;
Mitobe, Michihiro;
Tsuchiya, Ken;
Nitta, Kosaku;
Mochizuki, Toshio

Publication type:

Article

A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis.

Published in:

Journal of Neurogenetics, 2017, v. 31, n. 1/2, p. 26, doi. 10.1080/01677063.2017.1324441

By:

Tariq, Huma;
Mukhtar, Shahid;
Naz, Sadaf

Publication type:

Article

A truncation mutation in the L1CAM gene in a child with hydrocephalus.

Published in:

AIMS Molecular Science, 2021, v. 8, n. 4, p. 223, doi. 10.3934/molsci.2021017

By:

Srinivasamurthy, Madhan;
Kakanahalli, Nagaraj;
Benakanal, Shreeshail V.

Publication type:

Article

A SUPERMAN-like Gene Controls the Locule Number of Tomato Fruit.

Published in:

Plants (2223-7747), 2023, v. 12, n. 18, p. 3341, doi. 10.3390/plants12183341

By:

Zhang, Mi;
Zhou, Enbai;
Li, Meng;
Tian, Shenglan;
Xiao, Han

Publication type:

Article

A Point Mutation in Phytochromobilin synthase Alters the Circadian Clock and Photoperiodic Flowering of Medicago truncatula.

Published in:

Plants (2223-7747), 2022, v. 11, n. 3, p. 239, doi. 10.3390/plants11030239

By:

Perez-Santangelo, Soledad;
Napier, Nathanael;
Robson, Fran;
Weller, James L.;
Bond, Donna M.;
Macknight, Richard C.

Publication type:

Article

Characterization of a Chickpea Mutant Resistant to Phelipanche aegyptiaca Pers. and Orobanche crenata Forsk.

Published in:

Plants (2223-7747), 2021, v. 10, n. 12, p. 2552, doi. 10.3390/plants10122552

By:

Galili, Shmuel;
Hershenhorn, Joseph;
Smirnov, Evgeny;
Yoneyama, Koichi;
Xie, Xiaonan;
Amir-Segev, Orit;
Bellalou, Aharon;
Dor, Evgenia

Publication type:

Article

Discovery of a Novel Induced Polymorphism in SD1 Gene Governing Semi-Dwarfism in Rice and Development of a Functional Marker for Marker-Assisted Selection.

Published in:

Plants (2223-7747), 2020, v. 9, n. 9, p. 1198, doi. 10.3390/plants9091198

By:

Bhuvaneswari, Shivashankar;
Gopala Krishnan, Subbaiyan;
Ellur, Ranjith Kumar;
Vinod, Kunnummal Kurungara;
Bollinedi, Haritha;
Bhowmick, Prolay Kumar;
Bansal, Vijay Prakash;
Nagarajan, Mariappan;
Singh, Ashok Kumar

Publication type:

Article

Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1557, doi. 10.1002/acn3.52072

By:

Chen, Pin‐Shiuan;
Chen, Ying‐Fa;
Chiu, Jian‐Ying;
Wu, Meng‐Chen;
Tai, Chun‐Hwei;
Chang, Yung‐Yee;
Lan, Min‐Yu;
Lee, Ni‐Chung;
Lin, Chin‐Hsien

Publication type:

Article

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1311, doi. 10.1002/acn3.50831

By:

Yu, Meng;
Zhu, Ying;
Xie, Zhiying;
Zheng, Yiming;
Xiao, Jiangxi;
Zhang, Wei;
Nishino, Ichizo;
Yuan, Yun;
Wang, Zhaoxia

Publication type:

Article

Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 1006, doi. 10.1002/acn3.144

By:

Bouchelion, Ashleigh;
Zhang, Zhongjian;
Li, Yichao;
Qian, Haohua;
Mukherjee, Anil B.

Publication type:

Article

Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency.

Published in:

Clinical & Translational Immunology, 2020, v. 9, n. 7, p. 1, doi. 10.1002/cti2.1148

By:

Li, Philip H;
Wong, William WY;
Leung, Evelyn NY;
Lau, Chak‐sing;
Au, Elaine

Publication type:

Article

Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant.

Published in:

Journal of Cardiovascular Electrophysiology, 2021, v. 32, n. 10, p. 2785, doi. 10.1111/jce.15215

By:

Arana‐Rueda, Eduardo;
Pezzotti, María R.;
Pedrote, Alonso;
Acosta, Juan;
Frutos‐López, Manuel;
Varela, Lourdes‐María;
García‐Fernández, Noelia;
Castellano, Antonio

Publication type:

Article

Gene panel testing detects important genetic alterations in ulcerative colitis-associated colorectal neoplasia.

Published in:

Oncology Letters, 2022, v. 24, n. 6, p. N.PAG, doi. 10.3892/ol.2022.13562

By:

Shimada, Yoshifumi;
Nakano, Mae;
Mizuno, Ken-Ichi;
Yokoyama, Junji;
Matsumoto, Akio;
Tanaka, Kana;
Oyanagi, Hidehito;
Nakano, Masato;
Hirose, Yuki;
Ichikawa, Hiroshi;
Sakata, Jun;
Kameyama, Hitoshi;
Takii, Yasumasa;
Sugai, Mika;
Ling, Yiwei;
Takeuchi, Shiho;
Okuda, Shujiro;
Terai, Shuji;
Ajioka, Yoichi;
Wakai, Toshifumi

Publication type:

Article

Stratification of patients with colorectal cancer without the recorded family history.

Published in:

Oncology Letters, 2019, v. 17, n. 4, p. 3649

By:

Kašubová, Ivana;
Kalman, Michal;
Jašek, Karin;
Burjanivová, Tatiana;
Malicherová, Bibiana;
Vaňochová, Andrea;
Meršaková, Sandra;
Lasabová, Zora;
Plank, Lukáš

Publication type:

Article

Anorexia as the first clinical manifestation of von Hippel-Lindau syndrome.

Published in:

Molecular & Clinical Oncology, 2020, v. 13, n. 5, p. N.PAG, doi. 10.3892/mco.2020.2135

By:

Marques, Julia Hatagami;
Batista, Rafael Loch;
Moraes, Mariana Teichner De;
Morais, Barbara Albuquerque;
Pinto, Fernando Campos Gomes;
Almeida, Madson Q.;
Aragão, Denise De Cássia;
Teixeira, Manoel Jacobsen;
Mendonca, Berenice B.;
Cordás, Táki Athanássios

Publication type:

Article

A novel nonsense SOD1 mutation (p.Asn140Ter) in a sporadic amyotrophic lateral sclerosis case with rapid progression.

Published in:

2021

By:

Zhan, Zexin;
Shu, Yaqing;
Zhao, Yipeng;
Peng, Jiewei;
Qin, Bing

Publication type:

Report

NEK1 and GRN mutations coexist in a sporadic Chinese Hui descent ALS patient.

Published in:

2020

By:

Zhang, Kang;
Lu, Yan;
Chen, Jianhong;
Li, Jian;
Yadav, Kamal Kishor;
Yin, Jiao;
Yang, Xiao

Publication type:

Report

FUS-ALS presenting with myoclonic jerks in a 17-year-old man.

Published in:

2019

By:

Dodd, Katherine Claire;
Power, Rachael;
Ealing, John;
Hamdalla, Hisham

Publication type:

Report

Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract.

Published in:

Life (2075-1729), 2023, v. 13, n. 8, p. 1788, doi. 10.3390/life13081788

By:

Ullah, Muhammad Ikram;
Rehman, Zaira;
Dad, Rubina;
Alsrhani, Abdullah;
Shakil, Muhammad;
Ghanem, Heba Bassiony;
Alameen, Ayman Ali Mohammed;
Elsadek, Mohamed Farouk;
Eltayeb, Lienda Bashier;
Ullah, Sajjad;
Atif, Muhammad

Publication type:

Article