Found: 51
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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Bleomycin Induces Drug Efflux in Lungs: A Pitfall for Pharmacological Studies of Pulmonary Fibrosis.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2020, v. 62, n. 2, p. 178, doi. 10.1165/rcmb.2018-0147OC
- By:
- Publication type:
- Article
Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles.
- Published in:
- Neurology India, 2008, v. 56, n. 3, p. 314
- By:
- Publication type:
- Article
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784
- By:
- Publication type:
- Article
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2669, doi. 10.1093/hmg/ddm220
- By:
- Publication type:
- Article
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2647, doi. 10.1093/hmg/ddm231
- By:
- Publication type:
- Article
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 115, doi. 10.1093/hmg/ddl446
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- Publication type:
- Article
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
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- Publication type:
- Article
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01289-7
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- Publication type:
- Article
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Cortical atrophy and hypofibrinogenemia due to <italic>FGG</italic> and <italic>TBCD</italic> mutations in a single family: a case report.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0597-6
- By:
- Publication type:
- Article
CB<sub>1</sub>R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome.
- Published in:
- Clinical & Translational Medicine, 2021, v. 11, n. 7, p. 1, doi. 10.1002/ctm2.471
- By:
- Publication type:
- Article
Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052002
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- Publication type:
- Article
Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective.
- Published in:
- Neural Regeneration Research, 2024, v. 19, n. 5, p. 957, doi. 10.4103/1673-5374.385298
- By:
- Publication type:
- Article
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008143
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- Publication type:
- Article
Loss of function mutations in <italic>VARS</italic> encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
- Published in:
- Human Genetics, 2018, v. 137, n. 4, p. 293, doi. 10.1007/s00439-018-1882-3
- By:
- Publication type:
- Article
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.936064
- By:
- Publication type:
- Article
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells.
- Published in:
- Nature Methods, 2015, v. 12, n. 9, p. 885, doi. 10.1038/nmeth.3507
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- Publication type:
- Article
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 907, doi. 10.1002/jimd.12506
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- Publication type:
- Article
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173682
- By:
- Publication type:
- Article
Autophagy in Lysosomal Myopathies.
- Published in:
- Brain Pathology, 2012, v. 22, n. 1, p. 82, doi. 10.1111/j.1750-3639.2011.00543.x
- By:
- Publication type:
- Article
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 6, p. 1, doi. 10.1371/journal.pgen.1008841
- By:
- Publication type:
- Article
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2670, doi. 10.1093/brain/awu210
- By:
- Publication type:
- Article
Central core disease is due to RYR1 mutations in more than 90% of patients.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1470
- By:
- Publication type:
- Article
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
- Published in:
- Nature Medicine, 2009, v. 15, n. 6, p. 690, doi. 10.1038/nm.1956
- By:
- Publication type:
- Article
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?
- Published in:
- Developmental Medicine & Child Neurology, 2017, v. 59, n. 12, p. 1307, doi. 10.1111/dmcn.13509
- By:
- Publication type:
- Article
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?
- Published in:
- 2017
- By:
- Publication type:
- case study
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 532, doi. 10.1002/humu.23722
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- Publication type:
- Article
Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 42, doi. 10.1002/humu.23675
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- Publication type:
- Article
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 69, doi. 10.1002/humu.23345
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- Publication type:
- Article
Cover Image, Volume 38, Issue 10.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317
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- Publication type:
- Article
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287
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- Publication type:
- Article
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
- Published in:
- Human Mutation, 2016, v. 37, n. 11, p. 1144, doi. 10.1002/humu.23054
- By:
- Publication type:
- Article
Mutation Update for GNE Gene Variants Associated with GNE Myopathy.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 915, doi. 10.1002/humu.22583
- By:
- Publication type:
- Article
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 12, doi. 10.3390/jcm9010012
- By:
- Publication type:
- Article
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 691, doi. 10.1093/hmg/ddx435
- By:
- Publication type:
- Article
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2930, doi. 10.1002/ajmg.a.40658
- By:
- Publication type:
- Article
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2819, doi. 10.1002/ajmg.a.40514
- By:
- Publication type:
- Article
Cover Image, Volume 173A, Number 12, December 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
Defective ciliogenesis in INPP5E-related Joubert syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3231, doi. 10.1002/ajmg.a.38376
- By:
- Publication type:
- Article
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
- By:
- Publication type:
- Article
Clinical and genetic analysis of lipid storage myopathies.
- Published in:
- Muscle & Nerve, 2009, v. 39, n. 3, p. 333, doi. 10.1002/mus.21167
- By:
- Publication type:
- Article
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
- Published in:
- Muscle & Nerve, 2008, v. 38, n. 3, p. 1192, doi. 10.1002/mus.21030
- By:
- Publication type:
- Article
Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 2, p. 1, doi. 10.1371/journal.pgen.1006481
- By:
- Publication type:
- Article
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300
- By:
- Publication type:
- Article
Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.
- Published in:
- 2022
- By:
- Publication type:
- journal article