Results 231 to 240 of about 2,085,197 (350)

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

Re-Examining the Need for Tissue Diagnosis in Pediatric Diffuse Intrinsic Pontine Gliomas: A Review. [PDF]

Curr Neuropharmacol, 2017
Infinger LK, Stevenson CB.
europepmc   +1 more source

Role of tissue Doppler imaging in diagnosis of diastolic dysfunction in patients with hypertension in primary care setting [PDF]

, 2005
Ann Glasman
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

Molecular diagnosis of Ewing sarcoma/primitive neuroectodermal tumor in routinely processed tissue: a comparison of two FISH strategies and RT-PCR in malignant round cell tumors [PDF]

, 2005
Robert S. Bridge, Veena Rajaram, Louis P. Dehner, John D. Pfeifer, Arie Perry   +4 more
openalex   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Benefits of macroscopic on-site evaluation in endoscopic ultrasound-guided tissue acquisition for comprehensive genomic profiling

Endoscopy International Open
Junya Sato, Hirotoshi Ishiwatari, Kazuma Ishikawa, Hiroki Sakamoto, Takuya Doi, Masahiro Yamamura, Kazunori Takada, Yoichi Yamamoto, Masao Yoshida, Sayo Ito, Noboru Kawata, Kenichiro Imai, Kinichi Hotta, Hiroyuki Ono   +13 more
doaj   +1 more source

Isolated CNS Hodgkin's lymphoma: implications for tissue diagnosis. [PDF]

CNS Oncol, 2014
Martinez DL, Gujrati M, Geoffroy F, Tsung AJ.   +3 more
europepmc   +1 more source

Cellular Sensing and Diagnosis for Tissue Engineering and Biomaterial(Special Issue : Regenerative Medicine and Medical Instruments)

, 2002
S Hoshina
openalex   +2 more sources

Multiphoton fluorescence lifetime contrast in deep tissue imaging: prospects in redox imaging and disease diagnosis [PDF]

, 2005
V. Krishnan Ramanujan, Jianhua Zhang, Eva Biener, Brian Herman   +3 more
openalex   +1 more source