Results 191 to 200 of about 113,624 (330)

Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product [PDF]

, 2001
Karen E. Tucker, Marı́a T. Berciano, Erica Y. Jacobs, David F. LePage, Karl B. Shpargel, Jennifer J. Rossire, Edward K. L. Chan, Miguel Lafarga, Ronald A. Conlon, A. Gregory Matera   +9 more
openalex   +1 more source

Nondiabetic Ketoacidosis in a Patient With Spinal Muscular Atrophy Type II. [PDF]

AACE Endocrinol Diabetes
Aguilera-Astudillo M, Zahir D, Ullah MS, Mubeen F, Saand A, Shakil J.   +5 more
europepmc   +1 more source

Association between Perceived Dysphagia Symptoms and Swallowing Physiology in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Swallowing disorders are prevalent in Parkinson's disease (PD). Swallowing assessment often relies on patient‐reported outcome measures (PROMs). Although PROMs and physiologic swallowing measures correlate with disease severity, the relationship between PROMs and physiologic swallowing impairments is unclear.
Rabab Rangwala, Mariana Mendes Bahia, Jing Song, Danny Bega, Bonnie Martin‐Harris   +4 more
wiley   +1 more source

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

, 1999
Christian L. Lorson, Eric Hahnen, Elliot J. Androphy, Brunhilde Wirth   +3 more
openalex   +1 more source

Direct Interaction of the Spinal Muscular Atrophy Disease Protein SMN with the Small Nucleolar RNA-associated Protein Fibrillarin [PDF]

, 2001
Kevin W. Jones, Karen Gorzynski, Chadwick M. Hales, Utz Fischer, Farah Badbanchi, Rebecca M. Terns, Michael P. Terns   +6 more
openalex   +1 more source

Analysis of Eye Movements in Adults with Spinal Muscular Atrophy. [PDF]

Medicina (Kaunas)
Krivošík M, Košutzká Z, Šaling M, Boleková V, Brauneckerová R, Gábor M, Valkovič P.   +6 more
europepmc   +1 more source

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

, 1999
Katja Grohmann, Thomas F. Wienker, Kathrin Saar, Sabine Rudnik–Schöneborn, Gisela Stoltenburg‐Didinger, Rainer Rossi, Giuseppe Novelli, Gudrun Nürnberg, Arne Pfeufer, Brunhilde Wirth, André Reis, Klaus Zerres, Christoph Hübner   +12 more
openalex   +1 more source

Coilin forms the bridge between Cajal bodies and SMN, the Spinal Muscular Atrophy protein [PDF]

, 2001
Michael D. Hebert, Piotr Szymczyk, Karl B. Shpargel, A. Gregory Matera   +3 more
openalex   +1 more source

Combinatory Treatment to Alleviate Cellular Stress and Improve Skeletal Muscle Phenotype in Spinal Muscular Atrophy. [PDF]

Circ Res
Zeng W, Kong X, Caudal A, Zhao SR, Alamana C, Melesio J, Ren L, Guzman J, Pang PD, Howell K, Chen KS, Day JW, Wu JC.   +12 more
europepmc   +1 more source

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

, 1996
Francesca Capon, Chiarina Levato, Elena Bussaglia, Stefania Lo Cicero, Eduardo F. Tizzano, M. Baiget, Vincenzo Silani, Antonio Pizzuti, Giuseppe Novelli, Bruno Dallapiccola   +9 more
openalex   +1 more source