Results 131 to 140 of about 7,333,851 (157)

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP

Human Genetics, 2001
A variety of mutations have been identified in the X-linked adrenoleukodystrophy (X-ALD) gene, none of which is prevalent. In this work we describe a reverse transcription polymerase chain reaction (RT-PCR)-based strategy specially suited to the molecular characterisation of mutations in index cases. After RT-PCR amplification of the X-ALD transcript a
C P, Guimarães, M, Lemos, I, Menezes, T, Coelho, C, Sá-Miranda, J E, Azevedo   +5 more
openaire   +2 more sources

A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy

Gene, 2012
X-linked adrenoleukodystrophy (ALD; MIM #300100) is a neurodegenerative disorder caused by mutations in the ABCD1 adrenoleukodystrophy protein gene. The ABCD1 gene mutations have been reported by laboratories in China and Japan, but not in Korea. This case report describes a Korean boy diagnosed with X-ALD.
Jeong A, Park, Kyung Ran, Jun, Sung-Hee, Han, Gu-Hwan, Kim, Han-Wook, Yoo, Yun Jung, Hur   +5 more
openaire   +2 more sources

Early onset dementia with parkinsonism in a patient with pathogenic mutations in CSF1R and ABCD1 gene

Parkinsonism & Related Disorders, 2023
G. Novotni, N. Tanovska, I. Barbov, F. Stojkovska, V. Aleksovski, K. Karanfilovik, M. Pendaroska, D. Stoilkovski, A. Jovkovska Gerasovska, A. Angelova, K. Aleksovska, S. Hasani, D. Plasheska Karanfilska, A. Novotni   +13 more
semanticscholar   +1 more source

[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2004
To investigate mutations of ABCD1 gene in X- linked adrenoleukodystrophy (ALD) patients in China.Polymerase chain reaction and DNA direct sequencing were employed to analyze the 10 exons of ABCD1 gene in 25 ALD patients.Seventeen mutations in different exons (except exons 4, 9 and 10) were identified in 18 of 25 patients.
Hong, Pan, Hui, Xiong, Yue-hua, Zhang, Ye, Wu, Xin-hua, Bao, Yu-wu, Jiang, Xi-ru, Wu   +6 more
openaire   +1 more source

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.

Neuro-degenerative diseases, 2019
Adult adrenomyeloneuropathy (AMN) is caused by mutations in the ABCD1 gene. Some pure AMN patients develop cerebral demyelination late in life. However, hypoplasia and agenesis of the corpus callosum (CC) has never been reported in AMN patients.To describe a new clinical variant of AMN that is possibly caused by a novel ABCD1 gene mutation.A total of ...
Yusen, Qiu, Ling, Xin, Yuyao, Wang, Yanyan, Yu, Keji, Zou, Qian, Zhou, Yunqing, Chen, Shuyun, Chen, Min, Zhu, Daojun, Hong   +9 more
openaire   +1 more source

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.

Duodecim; laaketieteellinen aikakauskirja, 2018
We present a Finnish family in which adrenomyeloneuropathy (AMN) caused by the mutation in the ABCD1 gene was revealed as the cause of spastic paraparesis. . Two patients had hypoadrenalism, which is in some cases some associated with the disease . AMN is a hereditary disease manifested both in men and women.
Emil, Ylikallio, Elisa, Rahikkala, Riikka, Keski-Filppula, Mari, Auranen, Henna, Tyynismaa   +4 more
openaire   +1 more source

Gene symbol: ABCD1.

Human genetics, 2007
Lenka, Dvorakova, Helena, Myskova, Roque Daniel, Carrero-Valenzuela, Tristan, Antelo, Jorge, Fagalde, Daniela, Merched   +5 more
openaire   +3 more sources

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Cells, 2022
Eric J Mallack, Marc Engelen, Stephan Kemp   +2 more
exaly  

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

Neurodegenerative Diseases, 2018
Yu-Sen Qiu, Ling Xin, Yuyao Wang, Yanyan Yu, Keji Zou, Qian Zhou, Yunqing Chen, Shuyun Chen, Min Zhu, D. Hong   +9 more
semanticscholar   +1 more source

X-linked-adrenoleukodistrophy with a new mutation in the ABCD1 gene

Journal of the Neurological Sciences, 2015
N. García Lax, J. Marín Marín, P.A. Sánchez Ayaso, A.M. García Medina, I. Sánchez Ortuño, A. Sanz Monllor, J.A. Motos García, M. Palao Rico, M.P. Salmerón Ato, M.L. Martínez Navarro, J.A. Iniesta Valera, A. Díaz Ortuño   +11 more
openaire   +1 more source