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PYROXD1 gene
Known as:
PYRIDINE NUCLEOTIDE-DISULFIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1
, PYROXD1
, DKFZp762G094
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing
Jeremy D. Woods
,
N. Khanlou
,
+7 authors
S. Nelson
Neuropathology : official journal of the Japanese…
2020
Corpus ID: 211071298
Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early‐onset autosomal recessive myopathy…
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2019
2019
Clinical, histological, and genetic characterization of PYROXD1-related myopathy
X. Lornage
,
V. Schartner
,
+12 authors
J. Böhm
Acta Neuropathologica Communications
2019
Corpus ID: 201650669
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb…
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2018
2018
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
M. Sainio
,
S. Välipakka
,
+12 authors
H. Tyynismaa
Journal of Neurology
2018
Corpus ID: 54445046
ObjectiveTo describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has…
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2018
2018
The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Madhurima Saha
,
Hemakumar M. Reddy
,
+17 authors
P. Kang
Physiological genomics
2018
Corpus ID: 52139593
Next generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to…
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Review
2018
Review
2018
Myofibrillar myopathy in the genomic context
J. Fichna
,
A. Maruszak
,
C. Żekanowski
Journal of Applied Genetics
2018
Corpus ID: 52183267
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal…
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2018
2018
Evidence of evolutionary history and selective sweeps in the genome of Meishan pig reveals its genetic and phenotypic characterization
P. Zhao
,
Ying Yu
,
+10 authors
Jianfeng Liu
GigaScience
2018
Corpus ID: 44124910
Abstract Background Meishan is a pig breed indigenous to China and famous for its high fecundity. The traits of Meishan are…
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2018
2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Madhurima Saha
,
Hemakumar M. Reddy
,
+17 authors
P. Kang
Physiological genomics
2018
Corpus ID: 53044476
Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to…
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2016
2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
G. O'grady
,
H. Best
,
+39 authors
S. Cooper
American journal of human genetics
2016
Corpus ID: 205332097
2011
2011
Estimación de la proteína no degradable en el rumen de pastos de la Montaña Leonesa empleando el CNCPS (Cornell)
Carmen Valdés
,
Sonia Andrés
,
Francisco Javier Giráldez
,
R. García
,
Rodrigo Peláez
,
A. Calleja
2011
Corpus ID: 128229758
6 paginas, 3 tablas.-- Trabajo presentado a la 50a Reunion Cientifica de la Sociedad Espanola para el Estudio de los Pastos…
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Highly Cited
2006
Highly Cited
2006
Down-regulation of stem cell genes, including those in a 200-kb gene cluster at 12p13.31, is associated with in vivo differentiation of human male germ cell tumors.
J. Korkola
,
J. Houldsworth
,
+5 authors
R. Chaganti
Cancer research
2006
Corpus ID: 15679764
Adult male germ cell tumors (GCTs) comprise distinct groups: seminomas and nonseminomas, which include pluripotent embryonal…
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