Results 51 to 60 of about 103,359 (288)

Increased Prevalence of Minor Physical Anomalies Among the Healthy First-Degree Relatives of Bipolar I Patients – Results With the Méhes Scale

Frontiers in Psychiatry, 2021
Minor physical anomalies are somatic markers of aberrant neurodevelopment, so the higher prevalence of these signs among the relatives of bipolar I patients can confirm minor physical anomalies as endophenotypes.
Tímea Csulak, Györgyi Csábi, Róbert Herold, Viktor Vörös, Sára Jeges, András Hajnal, Márton Áron Kovács, Maria Simon, Márton Herold, Ákos Levente Tóth, Tamás Tényi   +10 more
doaj   +1 more source

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry [PDF]

, 2016
OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra ...
Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Brisca, Giacomo, Bruno, Claudio, Bucci, Elisabetta, Cao, Michelangelo, D'Amico, Maria Chiara, D'Angelo, Maria Grazia, Di Muzio, Antonio, Fiorillo, Chiara, Govi, Monica, Maggi, Lorenzo, Mele, Fabiano, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Nikolic, Ana, Pegoraro, Elena, Ravaglia, Sabrina, Ricci, Giulia, Rodolico, Carmelo, Rossi, Marta, Ruggiero, Lucia, Santoro, Lucio, Sera, Francesco, Siciliano, Gabriele, Tomelleri, Giuliano, Tupler, Rossella, Vercelli, Liliana, Villa, Luisa   +30 more
core   +4 more sources

Knowledge about Essential Tremor: A Study of Essential Tremor Families

Frontiers in Neurology, 2018
BackgroundEssential tremor (ET) is among the most common neurological diseases and it often runs in families. How knowledgeable ET patients and their families are about their disease has been the subject of surprisingly little scholarship.MethodsTo fill ...
Ashley D. Cristal, Karen P. Chen, Nora Cristina Hernandez, Pam Factor-Litvak, Lorraine N. Clark, Lorraine N. Clark, Ruth Ottman, Ruth Ottman, Ruth Ottman, Ruth Ottman, Elan D. Louis, Elan D. Louis, Elan D. Louis   +12 more
doaj   +1 more source

Familial Ménière's disease: clinical and genetic aspects [PDF]

, 2009
Background and purpose:Mre's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected ...
Bailey, M.E.S., Morrison, A W, Morrison, G A J   +2 more
core   +1 more source

Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2007
Most patients with adult onset primary torsion dystonia (AOPTD) have the sporadic form of the disease. They may however be the only manifesting family members of a poorly penetrant genetic disorder. Sensory changes, including structural abnormalities of the primary sensory cortex, are found in AOPTD. Spatial discrimination threshold (SDT), a measure of
Richard, Walsh, John P, O'Dwyer, Ifthikar H, Sheikh, Sean, O'Riordan, Tim, Lynch, Michael, Hutchinson   +5 more
openaire   +2 more sources

Revealing a brain network endophenotype in families with idiopathic generalised epilepsy.

PLoS ONE, 2014
Idiopathic generalised epilepsy (IGE) has a genetic basis. The mechanism of seizure expression is not fully known, but is assumed to involve large-scale brain networks. We hypothesised that abnormal brain network properties would be detected using EEG in
Fahmida A Chowdhury, Wessel Woldman, Thomas H B FitzGerald, Robert D C Elwes, Lina Nashef, John R Terry, Mark P Richardson   +6 more
doaj   +1 more source

Serum Cytokine Profile of Unaffected First-degree Relatives of Patients with Rheumatoid Arthritis [PDF]

The Journal of Rheumatology, 2014
Objective.Various cytokines have been implicated in the pathogenesis of rheumatoid arthritis (RA) and it is known that elevations in multiple cytokines occur prior to disease onset. The objective of our study is to determine whether the cytokine profile in unaffected first-degree relatives (FDR) of patients with RA is distinct from healthy controls ...
Barra, Lillian, Summers, Kelly, Bell, David, Cairns, Ewa   +3 more
openaire   +4 more sources

Aggressiveness and emotion dysregulation among adolescents first degree relatives of schizophrenia patients

European Psychiatry, 2023
Introduction Schizophrenia is a severe debilitating condition, with elevated level of aggressiveness reaching 33% in a large sample of patients. Unaffected biological relatives of schizophrenia patients share similar though less severe neurocognitive ...
F. Ghrissi, F. Fekih-romdhane, M. Stambouli, B. Abassi, M. Cheour   +4 more
doaj   +1 more source

Alterations in functional brain network structure induced by subchronic phencyclidine (PCP) treatment parallel those seen in schizophrenia [PDF]

, 2010
of poster presentation shown at the 2nd Biennial Schizophrenia International Research Conference on Alterations in functional brain network structure induced by subchronic phencyclidine (PCP) treatment parallel those seen in ...
Dawson, Neil, Higham, Des, Morris, Brian, Pratt, Judith   +3 more
core   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source