Results 241 to 250 of about 308,307 (292)

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies. [PDF]

Cancers (Basel)
Elbaz Younes I, Nguyen L, Zhang L.
europepmc   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report. [PDF]

Reports (MDPI)
Furuta Y, Tinker RJ, Grochowsky AR, Phillips JA.   +3 more
europepmc   +1 more source

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

Annals 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, Joy Cannon, Neel Dixit, Qihua Fan   +3 more
wiley   +1 more source

Proteome-wide model for human disease genetics. [PDF]

Nat Genet
Orenbuch R, Shearer CA, Kollasch AW, Spinner AD, Hopf T, van Niekerk L, Franceschi D, Dias M, Frazer J, Marks DS.   +9 more
europepmc   +1 more source

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons, Todd Levine, Charles H. Adler, Bailey Bellaire, Ningshan Wang, Pinky Agarwal, Georgina M. Aldridge, Alexandru Barboi, Daniel Claassen, Virgilio G. H. Evidente, Douglas Galasko, Alejandra Gonzalez‐Duarte, Ramon Gil, Mark Gudesblatt, Stuart H. Isaacson, Horacio Kaufmann, Pravin Khemani, Rajeev Kumar, Guillaume Lamotte, Andy J. Liu, Nikolaus R. McFarland, Mitchell G. Miglis, Adam Reynolds, Gregory A. Sahagian, Marie‐Helene Saint‐Hilaire, Julie B. Schwartzbard, Wolfgang Singer, Michael J. Soileau, Steven Vernino, Patricio Millar Vernetti, Oleg Yerstein, Roy Freeman   +31 more
wiley   +1 more source

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft. [PDF]

NPJ Genom Med
Jeong R, Bulyk ML.
europepmc   +1 more source

Identification of Compound Heterozygous <i>DPM1</i> Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie. [PDF]

Case Rep Pediatr
Song W, Zhou W, Yang L, Tang L.
europepmc   +1 more source

Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]

Orphanet J Rare Dis
Ijaz A, Abbas S, Shabbir M, Badshah Y, Abid F, Afsar T, Razak S.   +6 more
europepmc   +1 more source

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants. [PDF]

Mol Cell Pediatr
Elaraby NM, Metwally AM, Sayed SM, Ashaat NA, Gamal M, Hussen DF, Abuelela S, Ramadan A, Kobesiy MM, Shaker MM, Elgebaly H, Elnady HG, Gammal ME, Ashaat EA.   +13 more
europepmc   +1 more source