Results 111 to 120 of about 308,172 (351)

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patient-reported data

Heliyon
Background: The ataxias are rare complex neurological disorders challenging to diagnose and manage. We explored the patient pathways, health care use and costs of individuals attending a specialist ataxia centre (SAC) compared with non–specialist ...
Julie Vallortigara, Julie Greenfield, Barry Hunt, Holm Graessner, Carola Reinhard, Andreas Nadke, Bart-Jan Schuman, Deborah Hoffman, Steve Morris, Paola Giunti   +9 more
doaj   +1 more source

Effect of Long-Term Climbing Training on Cerebellar Ataxia: A Case Series [PDF]

, 2011
Stephan Marianne Anke, Sylvie Krattinger, Jérôme Pasquier, Bashir Shahid, Thomas Fournier, Ruegg Dieter Georg, Karin Diserens   +6 more
openalex   +1 more source

Spontaneous Regression of Diffuse Large B-cell Lymphoma in a Patient with Ataxia–Telangiectasia

, 2022
Roya Sherkat, Noushin Afshar Moghaddam, Nahid Reisi, Marzieh Rezaei   +3 more
openalex   +1 more source

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source

Ataxia Telangiectasia [PDF]

Proceedings of the Royal Society of Medicine, 1970
R, Tattersall, P J, Toghill
openaire   +4 more sources

R-loops: formation, function, and relevance to cell stress

Cell Stress, 2019
Exposure of genomic, single-stranded DNA (ssDNA) during transcription and replication creates opportunities for the formation of inappropriate secondary structures.
David F Allison, Gang Greg Wang
doaj   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Hodgkin’s lymphoma in a man with dilated cardiomyopathy and paraneoplastic ataxia: a therapeutical challenge

Hematology Reports, 2017
Hodgkin’s lymphoma is a cancer of the lymphatic system. We report the case of a man with Hodgkin’s lymphoma and cardiomyopathy, for which the dilemma was whether to use the standard protocol − putting the patient at risk of worsening of heart failure ...
Elisabetta Abruzzese, Malgorzata Monika Trawinska, Achille Gaspardone, Antonino Morocutti, Paolo de Fabritiis   +4 more
doaj   +1 more source