Results 171 to 180 of about 913,370 (314)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

How Gender-Sensitive Disaster Management is Addressed in the Turkish Parliament: A Qualitative Study from Feminist Bioethics Perspective. [PDF]

BMC Womens Health
Onal FG, Marangoz B.
europepmc   +1 more source

Arthur Scratchley, Esq., B.A., Fellow of Queen's College, Cambridge, No. 3 Parliament Street, was balloted for and duly elected a Fellow of the Society [PDF]

John Frederick William Herschel
openalex   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Medical Notes in Parliament [PDF]

, 1946

openalex   +3 more sources

Commentary: Masculinities and illness: access to healthcare services for men living with chronic illnesses. [PDF]

J Res Nurs
Ngcobo SE.
europepmc   +1 more source

Legislation for business: is it fit for public consumption? [PDF]

‘We are convinced that a central problem of the legislative process is that far too many bills are introduced into Parliament in a state that is recognised — even,we suspect, by Ministers — to be less than perfect.’ In short, ‘...
Malcolm Gammie
core  

Infectious disease outbreaks drive political mistrust. [PDF]

Proc Natl Acad Sci U S A
Koren O, Weidmann NB.
europepmc   +1 more source

Correspondence relative to the fisheries question, 1885-87 presented to Parliament by command of His Excellency the Governor General, 3rd May, 1887

, 1887
Henry Charles Keith Petty-Fitzmaurice
openalex   +2 more sources

Medical Notes in Parliament [PDF]

, 1910

openalex   +1 more source