Results 61 to 70 of about 187,613 (226)

The Use of Trichostatin A to Rescue TRKA+ Neurons in a Mouse Model of Familial Dysautonomia [PDF]

, 2017
Familial dysautonomia is a severe, recessive disease that devastates the peripheral nervous system, culminating in death of most patients by age 40.
Buksch, Richard
core  

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Clinical presentation of Crohn's disease. Association between familial disease, smoking, disease phenotype, extraintestinal manifestations and need for surgery [PDF]

, 2005
Background/Aims: Recent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in Crohn's disease (CD). It was also suggested that familial inflammatory bowel disease (IBD) is a homogenous subgroup, phenotypically ...
Gasztonyi, Beáta, Kovács, Attila, Figler, Mária, Szalay, Ferenc, Cseh, J., Mikó, Éva, Horváth, Gábor, Szekeres Barthó, J., Papp, János, Lakatos, Péter László, Molnár, Tamás, Kovács, Ágota, Lakatos, Péter, Hunyady, Béla, Tulassay, Zsolt, Kisbenedek, A. G., Lakatos, László   +16 more
core   +2 more sources

Familial dysautonomia.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998
No ...
  +7 more sources

Apathy in Parkinson's Disease: Distinguishing Overlapping Symptoms Via Network Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Anxiety, fatigue, and excessive daytime sleepiness (EDS) frequently co‐occur in Parkinson's disease (PD) and can influence the clinical determination of apathy. Objective To distinguish patient‐reported apathy from other non‐motor symptoms.
Joseph Seemiller, Abhimanyu Mahajan, Christopher B. Morrow, Joseph F. McGuire, Dawn Bowers, Kelly A. Mills, Gregory M. Pontone   +6 more
wiley   +1 more source

Continuous Intrajejunal Levodopa–Carbidopa Infusion in Parkinson's Disease Associated with 22q11.2 Deletion Syndrome: A Case Series

Movement Disorders Clinical Practice, EarlyView.
Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés, Jardel Amory, Hopes Lucie, Clément Guillemette, Lambert Laetitia, Becker Aurélie, Dexheimer Mylène, Bonnet Céline, Frismand Solène, Renaud Mathilde, Puisieux Salomé   +10 more
wiley   +1 more source

Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia

, 2013
Familial dysautonomia (Riley–Day syndrome) is an hereditary sensory and autonomic neuropathy (HSAN type III), expressed at birth, that is associated with reduced pain and temperature sensibilities and absent baroreflexes, causing orthostatic hypotension ...
Norcliffe-Kaufmann, Lucy, Kaufmann, Horacio, Axelrod, Felicia B., Macefield, Vaughan G. (R11708)   +3 more
core   +1 more source

Retrograde tubing as a rescue treatment for megaoesophagus: a case report

BMJ Open Gastroenterology
Familial dysautonomia (FD) is a genetic disease of the autonomous and sensory nervous systems. Severe gastro-oesophageal reflux is common and one of the major complications. Some patients with FD develop megaoesophagus.
Mordechai Slae, Jonathan Abraham Demma, Chedva S Weiss, Benjamin Koplewitz, Channa Maayan   +4 more
doaj   +1 more source

Cardiac sympathetic denervation in 6-OHDA-treated nonhuman primates. [PDF]

PLoS ONE, 2014
Cardiac sympathetic neurodegeneration and dysautonomia affect patients with sporadic and familial Parkinson's disease (PD) and are currently proposed as prodromal signs of PD. We have recently developed a nonhuman primate model of cardiac dysautonomia by
Valerie Joers, Kristine Dilley, Shahrose Rahman, Corinne Jones, Jeanette Shultz, Heather Simmons, Marina E Emborg   +6 more
doaj   +1 more source

The Costs of Parkinson's Disease in Europe: Results of the Costs of Illness in Neurology Initiative

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is the second most common neurodegenerative disease. It imposes substantial and growing burden on patients, families, and caregivers and reduces quality of life. The disability and care needs associated with PD carry economic ramifications.
Luisa Welter, Christopher Kruse, Mateo Montes‐Martinez, Paul Boon, Claudio Bassetti, Thomas Berger, Elena Moro, Maria Konti, Maria Lolich, Alessandro Tessitore, Amelia Hursey, Marjan Arvandi, Nikolai Mühlberger, Uwe Siebert, Richard Dodel, Günther Deuschl   +15 more
wiley   +1 more source