Results 91 to 100 of about 25,306 (274)

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

Annals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko, Gargi Banerjee, Dermot Mallon, Kitti Thiankhaw, Rupert Oliver, Victoria Harvey, Gareth Ambler, Michael Zandi, Hans Rolf Jäger, David J. Werring   +9 more
wiley   +1 more source

Exercise and progressive supranuclear palsy : the need for explicit exercise reporting [PDF]

, 2019
Background Progressive Supranuclear Palsy (PSP) is the most frequent form of atypical Parkinsonism. Although there is preliminary evidence for the benefits of gait rehabilitation, balance training and oculomotor exercises in PSP, the quality of ...
McGinley, Jennifer L., Morris, Meg E., Slade, Susan C., Underwood, Martin   +3 more
core   +2 more sources

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Atypical Visually Guided Precision Grip Control in Middle‐Aged and Older Autistic Adults

Autism Research, EarlyView.
ABSTRACT Sensorimotor impairments are well documented in autism spectrum disorder (ASD). However, little is known about how these difficulties present in middle‐aged and older autistic adults or how they relate to demographic factors and autistic traits.
Zheng Wang, Hang Qu, Danielle Christensen, Hanna M. Gemmell, Ellen M. Parks, Kyla E. Wetherington, Ann‐Marie Orlando, Regilda A. Romero, Bikram Karmakar, David E. Vaillancourt   +9 more
wiley   +1 more source

Behavioral and Neurophysiological Effects of Transdermal Rotigotine in Atypical Parkinsonism [PDF]

, 2014
Effective therapies for the so-called atypical parkinsonian syndrome (APS) such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), or corticobasal syndrome (CBS) are not available.
Davide Vito Moretti, Giovanni Battista Frisoni, Giuliano Binetti, Orazio Zanetti   +3 more
core   +2 more sources

Mismatching Expressions: Spatiotemporal and Kinematic Differences in Autistic and Non‐Autistic Facial Expressions

Autism Research, EarlyView.
ABSTRACT Preliminary studies suggest there are differences in the facial expressions produced by autistic and non‐autistic individuals. However, it is unclear what specifically is different, whether such differences remain after controlling for facial morphology and alexithymia, and whether production differences relate to perception differences ...
Connor T. Keating, Sophie Sowden‐Carvalho, Holly O′Donoghue, Jennifer L. Cook   +3 more
wiley   +1 more source

Characterizing Secondary and Atypical Parkinsonisms: Defining Features and Clinical Variability

Neuroglia
Parkinsonism is a clinical syndrome characterized by akinesia/bradykinesia, muscle rigidity, resting tremor, and postural instability. Within the group of parkinsonisms is Parkinson’s disease, also known as neurodegenerative parkinsonian syndrome.
Iraís Viveros-Martínez, Cristofer Zarate-Calderon, Donají Chi-Castañeda, Porfirio Carrillo, Gonzalo E. Aranda-Abreu, Armando J. Martínez, Jorge Manzo, Genaro A. Coria, Luis I. García   +8 more
doaj   +1 more source

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

Insulin‐like growth factor 1 receptor correlates with verbal memory in ILAE type 2 hippocampal sclerosis

Epilepsia, EarlyView.
Abstract Objective Long‐term memory deficits are often seen in patients with temporal lobe epilepsy (TLE). Recently, studies showed that patients with hippocampal sclerosis (HS) type 2, which presents with severe neuron loss in CA1 only, performed within the normal range. However, up to 30% of HS type 2 cases have memory deficits.
Henrique Cruz, Amauri Batista de Oliveira‐Júnior, André Fernando Garcia Cortez, Ricardo Lutzky Saute, Ricardo Silva Centeno, Joao Norberto Stávale, Mirian Salvadori Bittar Guaranha, Elza Marcia Targas Yacubian, Esper Abrão Cavalheiro, Joao Pereira Leite, Jose Eduardo Peixoto‐Santos   +10 more
wiley   +1 more source