Results 111 to 120 of about 125,979 (217)

Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias

, 2017
The episodic ataxias are a heterogeneous group of paroxysmal neurological disorders characterized by intermittent attacks of unsteadiness and incoordination, often associated with additional neurological features including migraine or hemiplegic migraine,
Sameer Zuberi, Elena Dominguez Garrido, Elide Mantuano, Marisol SampedroCastañeda, Thomas Bourinaris, Samuel McCall, SYNAPS Study Group, Henry Houlden, Andreea Manole, Vincenzo Salpietro, Roope Manniko, Emer O'Connor, Mina Ryten, Marina Frontali, Robyn W Labrum, Liana Veneziano, Conceicao Bettencourt, Jana Vandrovcova, Alfons Macaya, Richard Boles, Stephanie Efthymiou, Michael G Hanna, Paola Giunti, Juan A Botia, Dimitri M Kullmann   +24 more
core  

ON/OFF Phenomenon in 4‐Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights

Movement Disorders Clinical Practice, EarlyView.
Chiara Caneda, Eleonora Bertoncello, Alessia Peghin, Sara Satolli, Filippo Maria Santorelli, Michele Tinazzi, Ilaria Antonella Di Vico   +6 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Pharmacological and non‐pharmacological interventions for managing sleep disorders in children with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
xxxxxx Aim To systematically review the effectiveness, safety, and economic evidence of pharmacological and non‐pharmacological interventions for sleep disorders in children with cerebral palsy (CP). Method Databases including MEDLINE, Embase, CENTRAL (the Cochrane Library), International Clinical Trials Registry Platform of the World Health ...
Nishant Jaiswal, Lizzie Fisher, Giorgio Ciminata, Ryan Mulholland, Anna Noel‐Storr, Lesley Nutton, Valerie Orr, Paul Eunson, Nicola J. Cooper, Alex Sutton, Olivia Wu, Terry Quinn   +11 more
wiley   +1 more source

Vertigo and dizziness syndromes in children and adolescents: Clinical presentation and diagnostic pathway

Developmental Medicine &Child Neurology, EarlyView.
This study characterized 519 children and adolescents with vertigo using clinical, diagnostic, imaging, quality‐of‐life, and demographic data, identifying vestibular migraine as the most frequent diagnosis, followed by functional dizziness and recurrent vertigo of childhood.
Doreen Huppert, Ralf Strobl, Andreas Zwergal, Florian Heinen, Michaela V. Bonfert, Marius Näher, Anna Huppert, Filipp M. Filippopulos   +7 more
wiley   +1 more source

Streptococcus equi subsp. equi infection causing temporomandibular septic arthritis treated by mandibular condylectomy in a horse

Equine Veterinary Education, EarlyView.
Summary A 26‐year‐old pony mare was referred for weight loss, dysphagia, lethargy and fever. Clinical examination revealed left temporal swelling, masseter muscle atrophy and malocclusion. Computed tomography examination showed severe temporomandibular joint (TMJ) alteration, extensive osteolysis of the mandibular condyle and temporal bone and ...
L. Gross, A. Charbonnel, A. Meurice, C. De Fourmestraux   +3 more
wiley   +1 more source

Cerebellar Ataxia

, 2016
This chapter deals with disorders of the cerebellum and its connections. These conditions may be identified by the mode of onset—whether acute, subacute, chronic, or episodic.
Christopher H. Hawkes, Kapil D. Sethi, Thomas R. Swift   +2 more
core   +1 more source

“A DNA Damage Response (DDR) –independent Role for the Ataxia-Telangiectasia Mutated (ATM) Gene Product" [PDF]

, 2010
Ataxia-Telangiectasia (A-T) is a recessive hereditary syndrome characterized by cerebellar degeneration, telangiectasia, precocious aging, immunodeficiency, cancer predisposition and insulin-resistant diabetes.
Palazzo, Luca
core   +1 more source

Episodic ataxia: a 20-year diagnostic delay

Neurología (English Edition), 2020
I. Muro García, M.E. Toribio-Díaz, S. Quintas   +2 more
doaj   +1 more source

What Is the Role of Norepinephrine in Cerebellar Modulation and Stress-Induced Episodic Ataxia? [PDF]

Neurology, 2023
Benarroch E.
europepmc   +1 more source