Results 81 to 90 of about 28,732 (186)

A family clinical case of combination of two mendelial diseases: spinocerebellar ataxia type 1 and hypophosphatemic ricketis

open access: yesЯкутский медицинский журнал
The combination of two genetic syndromes in a single patient is a rare occurrence. This article describes a clinical case of a rare combination of two Mendelian diseases: spinocerebellar ataxia type I (SCA 1) and hypophosphatemic rickets in a single ...
M. A. Varlamova   +2 more
doaj   +1 more source

Dietary Titanium Dioxide (E171) Alters the Colon Transcriptome—Evidence From a Human Dietary Intervention Study

open access: yesMolecular Nutrition &Food Research, Volume 70, Issue 16, 27 August 2026.
Oral E171 exposure (2 mg/kg body weight/day) in a randomized cross‐over study of 31 healthy adults increased fecal titanium and blood superoxide while altering the colon transcriptome and enriching 73 pathways linked to oxidative stress, metabolism, and colorectal cancer.
Nicolaj S. Bischoff   +14 more
wiley   +1 more source

Otoneurological Abnormalities in Patients with Friedreich's Ataxia

open access: yesInternational Archives of Otorhinolaryngology, 2017
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases.
Bianca Simone Zeigelboim   +6 more
doaj   +1 more source

Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia

open access: yesTremor and Other Hyperkinetic Movements, 2018
Background: Myoclonus and tremor are common movement disorder phenomenologies in steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). Pure ataxia without encephalopathy has rarely been reported.
Pichet Termsarasab   +3 more
doaj   +1 more source

Treatment of Spinocerebellar Ataxia with Mesenchymal Stem Cells: A Phase I/IIa Clinical Study

open access: yesCell Transplantation, 2017
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there is not any effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases.
Yun-An Tsai   +9 more
doaj   +1 more source

Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

open access: yesArquivos de Neuro-Psiquiatria
Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of ...
Bruno Carniatto Marques Garcia   +4 more
doaj   +1 more source

Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient

open access: yesCase Reports in Psychiatry, 2019
Objective. Spinocerebellar ataxia type 1 (SCA1) is but one subtype of spinocerebellar ataxia (SCA), each of which can possibly be considered a separate neurological condition (N. Whaley, S. Fujioka, Z. K. Wszolek, 2011).
Eric Black
doaj   +1 more source

A Review of Spinocerebellar Ataxias in Taiwan

open access: yesActa Neurologica Taiwanica
Abstract Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous.
Chia-Ju Lee   +2 more
openaire   +3 more sources

Spectrum of Dystonia in Spinocerebellar Ataxia. [PDF]

open access: yesTremor Other Hyperkinet Mov (N Y)
Yellaturi SR, Mukherjee A, Pandey S.
europepmc   +1 more source

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