Results 161 to 170 of about 12,639 (247)

Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy [PDF]

, 2016
Nicole Armbruster, Annalisa Lattanzi, M. Jeavons, Laetitia van Wittenberghe, Bernard Gjata, Thibaut Marais, Samia Martin, Alban Vignaud, Thomas Voït, Fulvio Mavilio, Martine Barkats, Ana Buj‐Bello   +11 more
openalex   +1 more source

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Andreescu N, Caba L, Popoiu TA, Mozos I, Gug C.   +5 more
europepmc   +1 more source

Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes. [PDF]

Nat Genet
Ma W, Chaisson MJP.
europepmc   +1 more source

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: Lessons for carrier diagnosis [PDF]

, 2006
M. J. Barceló, Laura Alías, Lídia Caselles, Yolanda Robles, Montserrat Baiget, Eduardo F. Tizzano   +5 more
openalex   +1 more source

Carrier screening for spinal muscular atrophy in Italian population [PDF]

, 2014
Barone,C, Bianca,S, Calì,F, Chiavetta,V, Musumeci,S, Ragalmuto,A, ROMANO, Valentino, Ruggeri,G, Schinocca,P, Scuderi,C, Vitello,GA   +10 more
core   +1 more source

Survival of motor neuron 1 telomeric (SMN1); survival of motor neuron 2 centromeric (SMN2); stasimon (STAS; CG8408) [PDF]

, 2012

openalex   +1 more source

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. [PDF]

Int J Neonatal Screen
Groulx-Boivin E, Belzile A, Nguyen CÉ, Gauthier A, Chrestian N, Michaud-Gosselin C, Giguère Y, Berthier MT, Soucy JF, Laberge AM, Oskoui M.   +10 more
europepmc   +1 more source

A case of severe spinal muscular atrophy type 1 resistant to specific treatment due to a missense variant in the Tudor domain of SMN1

Tsuyoshi Aihara, Yuichi Abe, Akihito Nishioka, Itaru Hayakawa   +3 more
openalex   +1 more source

Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy [PDF]

, 2007
Laura Alías, M. J. Barceló, Ignasi Gich, Marta Estapé, Juan Parra, María Amenedo, Montserrat Baiget, Eduardo F. Tizzano   +7 more
openalex   +1 more source

Spinal muscular atrophy in the era of newborn screening: how the classification could change. [PDF]

Front Neurol
Varone A, Esposito G, Bitetti I.
europepmc   +1 more source