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A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review
A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review
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A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review

Cai, Dapeng ; Wu, Haohao ; Huang, Baogang ; Xiao, Weiwei ; Du, Kang

Frontiers in neurology, 2024-04, Vol.15, p.1349861 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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2
Knowledge and barriers to screening for colorectal cancer among individuals aged 40 years or older visiting primary healthcare clinics in Al-Khobar, Eastern Province
Knowledge and barriers to screening for colorectal cancer among individuals aged 40 years or older visiting primary healthcare clinics in Al-Khobar, Eastern Province
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Knowledge and barriers to screening for colorectal cancer among individuals aged 40 years or older visiting primary healthcare clinics in Al-Khobar, Eastern Province

Alabdulkader, Assim M ; Mustafa, Tajammal ; Almutailiq, Danah A ; Al-Maghrabi, Razan A ; Alzanadi, Rabab H ; Almohsen, Danyah S ; Alkaltham, Nourah K

Journal of Family & Community Medicine, 2024-01, Vol.31 (1), p.25-35 [Periódico revisado por pares]

India: Medknow Publications and Media Pvt. Ltd

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3
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Saadi, Saadia Maryam ; Cali, Elisa ; Khalid, Lubaba Bintee ; Yousaf, Hammad ; Zafar, Ghazala ; Khan, Haq Nawaz ; Sher, Muhammad ; Vona, Barbara ; Abdullah, Uzma ; Malik, Naveed Altaf ; Klar, Joakim ; Efthymiou, Stephanie ; Dahl, Niklas ; Houlden, Henry ; Toft, Mathias ; Baig, Shahid Mahmood ; Fatima, Ambrin ; Iqbal, Zafar

Genes, 2023-07, Vol.14 (7), p.1404 [Periódico revisado por pares]

Switzerland: MDPI AG

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4
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient
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Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient

Ji, Guang ; Wang, Ning ; Han, Xu ; Wang, Yaye ; Zhang, Jinru ; Wu, Yue ; Wu, Hongran ; Ma, Shaojuan ; Song, Xueqin

Frontiers in genetics, 2022-06, Vol.13 [Periódico revisado por pares]

Frontiers Media S.A

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5
Non-Motor Symptoms in PLA2G6- Associated Dystonia-Parkinsonism: A Case Report and Literature Review
Non-Motor Symptoms in PLA2G6- Associated Dystonia-Parkinsonism: A Case Report and Literature Review
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Non-Motor Symptoms in PLA2G6- Associated Dystonia-Parkinsonism: A Case Report and Literature Review

Vela-Desojo, Lydia ; Urso, Daniele ; Osuna-López, Mireia ; Hoenicka, Janet

Journal of clinical medicine, 2022-03, Vol.11 (6), p.1590 [Periódico revisado por pares]

Switzerland: MDPI AG

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6
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain
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Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain

Pullen, Melanie Y ; Weihl, Conrad C ; True, Heather L Brodsky, Jeffrey L.

PloS one, 2020-06, Vol.15 (6), p.e0234207-e0234207 [Periódico revisado por pares]

United States: Public Library of Science

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7
Different kinds of acupuncture treatments for knee osteoarthritis: a multicentre, randomized controlled trial
Different kinds of acupuncture treatments for knee osteoarthritis: a multicentre, randomized controlled trial
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Different kinds of acupuncture treatments for knee osteoarthritis: a multicentre, randomized controlled trial

Zhang, Qifei ; Fang, Jianqiao ; Chen, Lifang ; Wu, Jiayao ; Ni, Jing ; Liu, Fang ; Sun, Jing

Current controlled trials in cardiovascular medicine, 2020-03, Vol.21 (1), p.264-264, Article 264 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review
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Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review

Shen, Ting ; Hu, Jing ; Jiang, Yasi ; Zhao, Shuai ; Lin, Caixiu ; Yin, Xinzhen ; Yan, Yaping ; Pu, Jiali ; Lai, Hsin-Yi ; Zhang, Baorong

Frontiers in neurology, 2019-08, Vol.10, p.915 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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9
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Wakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas M

BMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
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Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

Li, Shan ; You, Yi ; Gao, Jinsong ; Mao, Bin ; Cao, Yixuan ; Zhao, Xiuli ; Zhang, Xue

BMC medical genetics, 2018-10, Vol.19 (1), p.179-179, Article 179 [Periódico revisado por pares]

England: BioMed Central Ltd

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