Results 131 to 140 of about 1,124,846 (342)
Novel heterozygous mutation of RTEL1 in interstitial pneumonia with autoimmune feature [PDF]
Yuan Zhang +4 more
openalex +1 more source
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
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]
Raluca Nan +5 more
openalex +1 more source
The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias
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
The Case of a 28‐Year‐Old Man With Gradually Progressive Proximal Leg Weakness
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
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
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]
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]
Vered Behar +6 more
openalex +1 more source

