Results 81 to 90 of about 608,413 (188)

Feasibility of combined treatment for type III spinal muscular atrophy: a pilot study

, 2017
Nataliia Sych, 1 Mariya Klunnyk,1 Iryna Matiyashchuk,1 Mariya Demchuk,1 Olena Ivankova,1 Andriy Sinelnyk,1 Khrystyna Sorochynska,2 Marina Skalozub3 1Clinical Department, 2Stem Cells Bank, 3Laboratory and Biotechnology Department, Cell Therapy Center ...
Sych N, Matiyashchuk I, Sorochynska K, Klunnyk M, Sinelnyk A, Skalozub M, Ivankova O, Demchuk M   +7 more
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A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

, 2019
Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric ...
Shervin Badv R, Ghahvechi Akbari M, Rahimi-Dehgolan S, Rashidi-Nezhad A, Nilipour Y   +4 more
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Novel capillary defects in spinal muscular atrophy [PDF]

, 2015
Spinal Muscular Atrophy (SMA) is an autosomal, recessive form of childhood motor neuron disease and the most common genetic cause of infant mortality in the western world.
Somers, Eilidh
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Congenital arthrogryposis secondary to spinal muscular atrophy: a case report

Revista de Ciencias Médicas de Pinar del Río, 2018
Introduction: spinal muscular atrophy consists of a degeneration of the anterior antlers of the spinal cord from hereditary causes with Mendelian autosomal recessive pattern leading to progressive muscle weakness of very bad prognosis.
Hernán Pereda Chávez, Ledys Mabel Fernández Hernández, Yesenia Pérez Expósito   +2 more
doaj  

Spinal Muscular Atrophy Motor Functional Scales and Measures of Pulmonary Function

, 2017
This chapter reviews existing functional motor and respiratory outcome measures in spinal muscular atrophy discussing how each of them fulfills a number of requirements including not only clinical usefulness but also statistical robustness, clinical ...
Montes, J., Mazzone, E. S., Mercuri, E, MESSINA, Sonia, Schroth, M.   +4 more
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Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy. [PDF]

Mol Genet Genomic Med
Wei H, Zheng YW, Zhang NK, Gao TL, Zheng JX, Li TY, Hong SR.   +6 more
europepmc   +1 more source

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series. [PDF]

Ann Med
Guo X, Luo Y, Li M, Li C, Chang Z, Zhu S, Wang Q, Huang Y.   +7 more
europepmc   +1 more source

Implementation of spinal muscular atrophy screening for newborns at a Singapore tertiary hospital

Annals, Academy of Medicine, Singapore
Shreya S Shetty, Janaki Abirami Palaniappan, Wei Cheng David Kuek, Dan Thu Van, Jia Ming Low, Furene Wang, Benedict Yan, Stacey KH Tay, Hui-Lin Chin   +8 more
doaj   +1 more source

<i>LRP12</i> CGG Repeat Expansions in Patients With Adult-Onset Non-5q Spinal Muscular Atrophy. [PDF]

Neurol Genet
Naruse H, Mitsui J, Ishiura H, Okubo S, Yoshida C, Mitsutake A, Maruta K, Uchida Y, Nobuhara Y, Okabe H, Nakamura Y, Suzuki R, Hotta Y, Matsukawa T, Tsukamoto H, Kawamura Y, Hara K, Takado Y, Kanzaki M, Uesaka Y, Ishii A, Kitamura A, Urushitani M, Takahashi Y, Kubota A, Maeda M, Shimizu J, Shirota Y, Hamada M, Satake W, Katagiri T, Takahama S, Yamamoto T, Tsuji S, Nakamura Y, Toda T.   +35 more
europepmc   +1 more source

Nationwide Epidemiology of Motor Neuron Diseases in Latvia (2020-2024): Incidence, Prevalence, and Clinical Characteristics. [PDF]

Eur J Neurol
Krutovs V, Grosmane A, Kažmere RR, Roddate M, Ķauķe G, Grosa DP, Šetlere S, Dīriks M, Karelis G, Ķēniņa V.   +9 more
europepmc   +1 more source