spinal muscular atrophy

Explore academic connections and research related to this keyword

209
Views
17
Total Connections
Search More Keywords

Related Articles & Bibliographies

1
Preimplantation Genetic Testing for Monogenic Disease of Spinal Muscular Atrophy by Multiple Displacement Amplification: 11 unaffected livebirths.
Fu, Yu;Shen, Xiaoting;Wu, Haitao;Chen, Dongjia;Zhou, Canquan;
2019 International journal of medical sciences DOI: 10.7150/ijms.32319 246 views
2
Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells.
Pagliarini, Vittoria;Guerra, Marika;Di Rosa, Valentina;Compagnucci, Claudia;Sette, Claudio;
2019 Journal of Neurochemistry DOI: 10.1111/jnc.14935 301 views
3
Matching pairs difficulty in children with spinal muscular atrophy type I.
Polido, Graziela Jorge;Barbosa, Alessandra Ferreira;Morimoto, Carlos Hitoshi;Caromano, Fátima Aparec...
2017 neuromuscular disorders : nmd DOI: S0960-8966(16)30891-... 227 views
4
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1.
Young, Sally Dunaway;Montes, Jacqueline;Salazar, Rachel;Glanzman, Allan M;Pasternak, Amy;Mirek, Eliz...
2020 journal of neuromuscular diseases DOI: 10.3233/JND-190462 247 views
5
Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen.
Wurster, Claudia D;Koch, Jan C;Cordts, Isabell;Dreyhaupt, Jens;Otto, Markus;Uzelac, Zeljko;Witzel, S...
2019 frontiers in neurology DOI: 10.3389/fneur.2019.0... 216 views
6
hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3
;W. Marques Jr.;M.B. Davis;P.M. Abou-Sleiman;V.D. Marques;W.A. Silva Jr.;M.A. Zago;C.S. Sobreira;A.A...
2004 Free radical biology & medicine DOI: 10.1590/S0100-879X20... 166 views
7
dominant spinal muscular atrophy is caused by mutations in bicd2, an important golgin protein
;Brunhilde eWirth;Brunhilde eWirth;Brunhilde eWirth;Lilian A. Martinez-Carrera;Lilian A. Martinez-Ca...
2015 Journal of enzyme inhibition and medicinal chemist... DOI: 10.3389/fnins.2015.0... 160 views
8
primary hyperparathyroidism simulating motor neuron disease: case report hiperparatiroidismo primário simulando doença do neurônio motor: relato de caso
;Alzira Alves Siqueira Carvalho;Adriano Vieira;Hougelle Simplício;Satomi Fugygara;Solyon Maia Carval...
2005 communications in computer and information science DOI: 10.1590/S0004-282X20... 146 views
9
gemins: potential therapeutic targets for spinal muscular atrophy?
;Rebecca eBorg;Ruben J Cauchi
2014 Journal of enzyme inhibition and medicinal chemist... DOI: 10.3389/fnins.2014.0... 188 views
10
self-locomotion and spatial language and spatial cognition: insights from typical and atypical development
;Ora eOudgenoeg-Paz;James eRivière
2014 accounts of chemical research DOI: 10.3389/fpsyg.2014.0... 167 views

Related Journals

human gene therapy
ISSN: 1557-7422 366 views
Journal of global health
ISSN: 2047-2986 675 views
Journal of Neurochemistry
ISSN: 1471-4159 452 views
frontiers in neurology
ISSN: 1664-2295 677 views
journal of neuromuscular diseases
ISSN: 2214-3602 313 views
International journal of medical sciences
ISSN: 1449-1907 422 views
neuromuscular disorders : nmd
ISSN: 1873-2364 270 views

Related Research Groups

No Research Groups Found

No research groups are currently associated with this keyword.

Explore Related Keywords

haplotype analysis multiple displacement amplification preimplantation genetic testing for monogenic disease lbh589 nusinersen therapy smn2 splicing cognition visual perception surgery scoliosis motor function lumbar puncture motor neuron disease antisense-oligonucleotide routine csf parameters sma endocytosis dynein neuropsychiatry biological psychiatry