Found: 16
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Parkinson's Disease with a Homozygous PARK7 Mutation and Clinical Onset at the Age of 5 Years.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 1, p. 149, doi. 10.1002/mdc3.13114
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- Publication type:
- Article
COG5-CDG: expanding the clinical spectrum.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-94
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- Publication type:
- Article
COG5-CDG: expanding the clinical spectrum.
- Published in:
- 2012
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- Publication type:
- journal article
Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0123568
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- Publication type:
- Article
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 847, doi. 10.1038/ejhg.2013.231
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- Publication type:
- Article
SLC37A4‐CDG: Second patient.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 122, doi. 10.1002/jmd2.12195
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- Publication type:
- Article
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 4, p. 550, doi. 10.1002/ana.23632
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- Publication type:
- Article
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.
- Published in:
- 2018
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- Publication type:
- journal article
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 11, p. 2412, doi. 10.1093/hmg/dds055
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- Publication type:
- Article
Challenges in molecular diagnosis of X-linked Intellectual disability.
- Published in:
- British Medical Bulletin, 2020, v. 133, n. 1, p. 36, doi. 10.1093/bmb/ldz039
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- Publication type:
- Article
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 1, p. 345, doi. 10.1111/ene.15091
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- Publication type:
- Article
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.
- Published in:
- Glycoconjugate Journal, 2013, v. 30, n. 1, p. 67, doi. 10.1007/s10719-012-9445-7
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- Publication type:
- Article
An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology.
- Published in:
- 2019
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- Publication type:
- Case Study
MAN1B1 Deficiency: An Unexpected CDG-II.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003989
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- Publication type:
- Article
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.
- Published in:
- Glycobiology, 2015, v. 25, n. 6, p. 669, doi. 10.1093/glycob/cwv009
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- Publication type:
- Article
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2159, doi. 10.1093/hmg/9.14.2159
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- Publication type:
- Article