Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1240
Abstract: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that… read more here.
Keywords: spg11 mutations; arhsp jals; combined arhsp; phenotype patients ... See more keywords
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.04.005
Abstract: BACKGROUND Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. Nowadays with the use of new tools such as next generation sequencing, more ML-IV affected patients… read more here.
Keywords: phenotype; phenotype patients; mucolipidosis; patients affected ... See more keywords
Identification of a predominant cognitive phenotype in patients with multiple sclerosis
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Neurology"
DOI: 10.1111/ene.14186
Abstract: Cognitive impairment occurs frequently in multiple sclerosis (MS). However, the prevalence and clinical characteristics of cognitive MS phenotype are not well established. The aim of the study was to characterize the clinical course and neurocognitive… read more here.
Keywords: phenotype patients; predominant cognitive; cognitive phenotype; multiple sclerosis ... See more keywords
Comparing Lean and Obese PCOS in Different PCOS Phenotypes: Evidence That the Body Weight Is More Important than the Rotterdam Phenotype in Influencing the Metabolic Status
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12102313
Abstract: Polycystic Ovary Syndrome (PCOS) represents a heterogeneous disorder and, using Rotterdam diagnostic criteria, four main phenotypes (A, B, C, and D) have been distinguished. However, it remains unclear whether lean versus obesity status influences findings… read more here.
Keywords: phenotype phenotype; phenotype; pcos patients; body weight ... See more keywords