Results 131 to 140 of about 1,124,846 (342)

Novel heterozygous mutation of RTEL1 in interstitial pneumonia with autoimmune feature [PDF]

open access: bronze, 2021
Yuan Zhang   +4 more
openalex   +1 more source

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

open access: yesAnnals 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   +7 more
wiley   +1 more source

Autoimmune polyglandular syndrome: case report series [PDF]

open access: bronze, 2015
Raluca Nan   +5 more
openalex   +1 more source

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut   +3 more
wiley   +1 more source

Autoimmunity [PDF]

open access: yesCurrent Opinion in Immunology, 2009
Jeffrey A, Bluestone, Vijay, Kuchroo
openaire   +2 more sources

The Case of a 28‐Year‐Old Man With Gradually Progressive Proximal Leg Weakness

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This is a case of a 28‐year‐old man who presented with a 6‐month history of gradually progressive proximal leg weakness and pain that worsened on exercise and was relieved by rest. He had no symptoms in his upper limbs. Apart from intermittent mild ptosis and diplopia, he had no other cranial nerve symptoms.
Melody T. Asukile   +3 more
wiley   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

open access: yesAnnals 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   +13 more
wiley   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle   +11 more
wiley   +1 more source

Subdural Hematoma in Grave’s Disease Induced Thrombocytopenia. [PDF]

open access: yes, 2013
Subdural hematoma (SDH) usually occurs secondary to trauma, in bleeding disorders it may occur spontaneously. It is a rare complication of immune thrombocytopenia.
Chandek, S   +4 more
core   +1 more source

Quantitative Analysis of Myelin sheaths in a Mouse Model of Experimental Autoimmune Encephalitis [PDF]

open access: bronze, 2005
Vered Behar   +6 more
openalex   +1 more source

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