Results 101 to 110 of about 187,598 (208)
Walsh & Hoyt: Familial Dysautonomia
, 2005 Riley-Day syndrome, also called familial dysautonomia, is a rare disorder found almost exclusively in persons of Ashkenazi Jewish descent. The responsible gene maps to chromosome 9q3133 and is inherited in autosomal-recessive fashion.
Aki Kawasaki, MD, PhD
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Health Science Reports, Volume 9, Issue 9, September 2026.ABSTRACT Background and Aims Anemia is a disorder caused by insufficient red blood cell count or hemoglobin concentration, affecting nearly a quarter of the global population each year. An undiagnosed condition can escalate into life‐threatening complications, particularly among pregnant women and children. Although anemia causes identifiable symptoms,
Mohammad Hadi Ghahroudi +2 more
wiley +1 more source
Clinico-Pathological Correlation of the Optic Neuropathy in Familial Dysautonomia
, 2014 We have demonstrated that Familial Dysautonomia (FD) or Riley Day syndrome is associated with a specific optic neuropathy that resembles other mitochondrial optic neuropathies.
Carlos E. Mendoza-Santiesteban; Thomas R. Hedges III; Nora Laver; Lucy Norcliffe-Kaufmann; Felicia Axelrod; Horacio Kaufmann
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Pathologic Abnormalities in the Optic Nerves from Familial Dysautonomia
, 2011 Riley Day syndrome, or familial dysautonomia, has rarely been shown to be associated with optic atrophy. Recently we have evaluated a group of patients with this condition and have found evidence of maculopapillary optic nerve damage in all of them.
Carlos Mendoza; Thomas Hedges; Felicia Axelrod; Horacio Kaufman; Nora Laver; Nada Farhat
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Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2081-2092, September 2026.Abstract Background Non‐motor symptoms, especially autonomic dysfunction, are major contributors to disability and decreased quality of life in Parkinson's disease (PD). Despite being common and having a wide range of clinical facets, exocrine gland dysfunction is still not well recognized and managed.
Renato P. Munhoz +2 more
wiley +1 more source
Alimentary Pharmacology &Therapeutics, Volume 64, Issue 5, Page 574-589, September 2026.This meta‐analysis reveals that a significant proportion of patients with hEDS/HSD experience gastrointestinal symptoms. The most prevalent symptoms include heartburn, abdominal pain, constipation, and nausea. There is a notable overlap of hEDS/HSD with chronic fatigue, DGBI, GERD, migraine, and orthostatic intolerance.
Dmitrii Kulin +9 more
wiley +1 more source
Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.ABSTRACT Background and Aims The Val122Ile ATTR Amyloidosis has traditionally been linked to cardiac manifestations. Recent studies suggest that neuropathy may be relevant. In this study, we characterized its peripheral nerve manifestations in depth. Methods This was a national, multicenter, observational, retrospective study.
Anna Paula Paranhos +16 more
wiley +1 more source
, 2018 Supplemental material, Supplemental_Material_for_Devel_Screen_Platf_to_ident_small_molecules_modyf_splicing_in_FD_by_Salani_et_al for Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial ...
Ranjit Shetty (5613053) +11 more
core +1 more source
Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia
Neurobiology of DiseaseFamilial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons.
Frederik Arnskötter +18 more
doaj +1 more source