Results 161 to 170 of about 84,457 (246)

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

, 2000
Brunhilde Wirth
openalex   +1 more source

Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy. [PDF]

Neurol Genet
Rimoldi M, Magri F, Meneri M, Gagliardi D, Ada Sansone V, Albamonte E, Ottoboni L, Comi GP, Mercuri E, Tiziano FD, Ronchi D, Corti S.   +11 more
europepmc   +1 more source

Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience. [PDF]

Ann Indian Acad Neurol
Mohanlal S, Mubeena PM, Hussain H, Anand M, Kumar S, Ashraf VV, Rabia TA, Janardhanan S, Kumar S.   +8 more
europepmc   +1 more source

Genetic risk assessment in carrier testing for spinal muscular atrophy [PDF]

, 2002
Shuji Ogino, Debra G. B. Leonard, Hanna Rennert, Warren J. Ewens, Robert B. Wilson   +4 more
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Safety through design: Expanding options for spinal muscular atrophy gene therapy. [PDF]

Mol Ther Methods Clin Dev
Groen EJN, Wadman RI.
europepmc   +1 more source

Physical capacity in non‐ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study [PDF]

, 2002
Birgit F. Steffensen, Søren Lyager, Birgit Werge, Jes Rahbek, Eva Mattsson   +4 more
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The Effect of Aerobic Exercise Training on Patients with Type III Spinal Muscular Atrophy. [PDF]

J Clin Med
Mergen Kilic S, Mutluay F, Cakar A, Giris M, Durmus H, Bingul I, Gedikbasi A, Kucukgergin C, Uyguner ZO, Parman Y.   +9 more
europepmc   +1 more source

Administration of Onasemnogene Abeparvovec in an Infant With Spinal Muscular Atrophy and PCR-Confirmed SARS-CoV-2 Infection. [PDF]

Cureus
Shimomura I, Maruyama S, Kodama Y, Matsunaga M, Okamoto Y.   +4 more
europepmc   +1 more source

Correlation between Genotype and Phenotype in Korean Patients with Spinal Muscular Atrophy

, 2001
Kyounam Cho, Kyunghwa Ryu, Eunha Lee, Sunyoung Won, Jong Soo Kim, Ook Joon Yoo, Sihoun Hahn   +6 more
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Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy. [PDF]

Brain Pathol
Cottam NC, Dowling M, Kong L, Chan-Cortés MH, Charvet CJ, Norzeron N, Grover C, Harrington MA, Sumner CJ, Sun J.   +9 more
europepmc   +1 more source