Results 1 to 10 of about 485 (123)

Correlation Between Maximal Tongue Pressure and Swallowing Function in Spinal and Bulbar Muscular Atrophy [PDF]

open access: yesFrontiers in Neurology, 2021
Background: Spinal and bulbar muscular atrophy (SBMA) is an X-lined motor neuron disease characterized by progressive muscle weakness, bulbar palsy, and dysphagia.
Dae-Won Gwak   +7 more
doaj   +2 more sources

X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy) com seguimento eletrofisiológico de longo prazo: relato de caso [PDF]

open access: yesArquivos de Neuro-Psiquiatria, 2005
X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene.
João Aris Kouyoumdjian   +2 more
doaj   +2 more sources

X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon [PDF]

open access: yesEinstein (São Paulo), 2018
The X-linked spinal and bulbar muscular atrophy (Kennedy’s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle.
Camila Nascimento Alves   +5 more
doaj   +2 more sources

High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X‐Linked Hypophosphatemic Rickets (XLHR)

open access: yesJournal of Bone and Mineral Research, Volume 34, Issue 3, Page 490-496, March 2019., 2019
ABSTRACT X‐linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial ...
Anya Rothenbuhler   +7 more
wiley   +1 more source

Dendritic Spines and Development: Towards a Unifying Model of Spinogenesis—A Present Day Review of Cajal′s Histological Slides and Drawings

open access: yesNeural Plasticity, Volume 2010, Issue 1, 2010., 2010
Dendritic spines receive the majority of excitatory connections in the central nervous system, and, thus, they are key structures in the regulation of neural activity. Hence, the cellular and molecular mechanisms underlying their generation and plasticity, both during development and in adulthood, are a matter of fundamental and practical interest ...
Pablo García-López   +3 more
wiley   +1 more source

The Values and Preferences of People Living With Motor Neurone Disease (MND): A Systematic Review Protocol

open access: yesClinical and Public Health Guidelines, Volume 2, Issue 4, October 2025.
ABSTRACT Objective To systematically review the values and preferences of people with lived experience of motor neurone disease (MND), including those living with MND, caregivers and genetic carriers, regarding their health‐related outcomes. Introduction MND is a devastating neurodegenerative disease that significantly impacts those living with the ...
Timothy Hugh Barker   +12 more
wiley   +1 more source

Improving the Quality of Life of a Patient with Kennedy’s Disease Using Acupuncture: A Case Report

open access: yesJournal of Acupuncture Research
Kennedy’s disease is a rare X-linked neuromuscular disorder with no curative treatment. Although acupuncture has been suggested as a supportive therapy, evidence supporting its effectiveness remains limited. This single-case study is aimed to assess a
Sohae Cho, Eun-Heui Jo, SeungWon Paik
doaj   +1 more source

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA). [PDF]

open access: yesSci Rep, 2023
Blasi L   +11 more
europepmc   +1 more source

Kennedy's disease presented with mastication fatigue combined with positive titin antibody: a case report. [PDF]

open access: yesBMC Neurol, 2022
Ji G   +8 more
europepmc   +1 more source

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