Results 51 to 60 of about 12,639 (247)

Quantitative Analysis ofSMN1Gene and Estimation ofSMN1Deletion Carrier Frequency in Korean Population based on Real-Time PCR [PDF]

Journal of Korean Medical Science, 2004
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection.
Lee, Tae-Mi, Kim, Sang-Wun, Lee, Kwang-Soo, Jin, Hyun-Seok, Koo, Soo Kyung, Jo, Inho, Kang, Seongman, Jung, Sung-Chul   +7 more
openaire   +2 more sources

Mutational analysis of SMN gene in patients with spinal muscular atrophy and the correlation between mutation and the severity of clinical manifestations [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2017
Objective: studying of mutations in the SMN1, SMN2 and NAIP genes in the diagnosis of spinal muscular atrophy and determining the correlation between the mutation and the severity of clinical manifestations.
Almagul Nagimtaeeva, Dina Zhanataeva, Bakytgul Kamalieva, Gulshara Abildinova   +3 more
doaj   +1 more source

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]

, 2017
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca, Cacchione, Stefano, DI GIORGIO, MARIA LAURA, Esposito, Alessandro, Feiguin, Fabian, Gallotta, Ivan, Maccallini, Paolo, Mccabe, Brian D., Micheli, Emanuela, Raffa, GRAZIA DANIELA, Schiavi, Elia Di, Verni', Fiammetta   +11 more
core   +1 more source

SMN1 Deletions Among Singaporean Patients With Spinal Muscular Atrophy

Annals of the Academy of Medicine, Singapore, 2005
Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. It is the second most frequent autosomal recessive disease among Caucasian populations with a prevalence of between 1 in 6000 and 1 in 10,000 live births, and a ...
A H M, Lai, E S, Tan, H Y, Law, C S, Yoon, I S L, Ng   +4 more
openaire   +2 more sources

Detection of SMN1 loss with PCR-based screening test

Bulletin of Russian State Medical University, 2023
Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive skeletal muscular weakness and atrophy. The newborn screening for spinal muscular atrophy should define all molecular forms of SMA. The aim of this study is to compare a PCR-based test for detection of homozygous SMN1 loss with multiple ligation probe ...
VD Nazarov, CC Cherebillo, SV Lapin, DV Sidorenko, YA Devyatkina, AC Musonova, TV Petrova, AI Nikiforova, AV Ivanova   +8 more
openaire   +1 more source

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis [PDF]

, 2017
This document is the Accepted Manuscript version of the following article: Riessland et al., 'Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis', The American Journal of ...
Aaradhita Upadhyay, Ackermann, Akten, Alexander Hoischen, Anna Kaczmarek, Anne C. Hart, Arkblad, Armstrong, Benjamini, Benkhelifa-Ziyyat, Bogdanik, Briese, Brunhilde Wirth, Burgoyne, Burgoyne, C. Frank Bennett, Calixto, Cartegni, Cashman, Cathleen Bradler, Christian Gilissen, Cobben, Di Sole, Dimitriadi, Dimitriadi, Drapeau, Dubowitz, Dunning, El-Khodor, Fatt, Feldkötter, Flanagan-Steet, Frank Rigo, Gomez, Greene, Gudbjartsson, Gudrun Nürnberg, Hahnen, Hamilton, Haucke, Heesen, Heiko Löhr, Hidaka, Hosseinibarkooie, Hsieh-Li, Hua, Huber, Iino, Irmgard Hölker, Ivings, Jablonka, Kaczmarek, Kariya, Kashima, Kathryn J. Swoboda, Kong, Kübler, Ladant, Laura Torres-Benito, Lefebvre, Li, Liu, Lorson, Lotti, Lunn, Lutz Garbes, Macia, Maria Dimitriadi, Markus Riessland, Martinez-Carrera, Matthias Hammerschmidt, McWhorter, Mentis, Michael Walter, Min Jeong Kye, Miriam Peters, Monani, Mourelatos, Mukhopadhyay, Murray, Nasim Biglari, Neveling, Oates, Oprea, Parsons, Peeters, Pellizzoni, Peter Kloppenburg, Peter Nürnberg, Prior, Ramser, Riessland, Rossoll, Ruiz, Rüschendorf, Sandra Kröber, Schreij, See, Seyyedmohsen Hosseinibarkooie, Shababi, Shababi, Somers, Stevens, Sudhof, Sugarman, Sun, Suszyńska-Zajczyk, Svenja Schneider, Südhof, Thiele, Vanessa Grysko, Venkataraman, Viviano, von Kleist, Wang, Westerfield, Wettenhall, Wirth, Wirth, Wirth, Wishart, Yamatani, Zerres   +122 more
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Atrofias musculares espinales no asociadas a SMN1

Revista Médica Clínica Las Condes, 2018
RESUMEN: Las atrofias musculares espinales no-5q son un conjunto de entidades hereditarias, clínica y genéticamente heterogéneas secundarias a compromiso de las células del asta anterior de la médula. No están asociadas a deleción del gen de sobrevida de la motoneurona (SMN1) responsable de la forma más conocida y clásica de atrofia muscular espinal ...
Claudia Castiglioni, Andrés Lozano-Arango   +1 more
openaire   +2 more sources

Unaffected patients with a homozygous absence of the SMN1 gene [PDF]

European Journal of Human Genetics, 2008
In this report, we present three families in which we identified asymptomatic carriers of a homozygous absence of the SMN1 gene. In the first family, the bialleleic deletion was found in three of four siblings: two affected brothers (SMA type 3a and 3b) and a 25-years-old asymptomatic sister. All of them have four SMN2 copies.
Maria, Jedrzejowska, Janina, Borkowska, Janusz, Zimowski, Anna, Kostera-Pruszczyk, Michał, Milewski, Marta, Jurek, Danuta, Sielska, Ewa, Kostyk, Walenty, Nyka, Jacek, Zaremba, Irena, Hausmanowa-Petrusewicz   +10 more
openaire   +2 more sources

A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. [PDF]

PLoS ONE, 2012
Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease.
Natalia N Singh, Joonbae Seo, Sarah J Rahn, Ravindra N Singh   +3 more
doaj   +1 more source

Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs [PDF]

, 2011
Copyright @ 2011 The Authors. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use ...
Abovich, Andrew Bottrill, Baccon, Batsche, Bedford, Behrens, Behzadnia, Behzadnia, Black, Brow, Campion, Charroux, Charroux, Das, Deckert, Dignam, Donmez, Donmez, Ester, Evgeny M. Makarov, Gozani, Gubitz, Hall, Hartmuth, Hernandez, Ishihama, Jurica, Kao, Kent, Kofler, Konarska, Kuhn, Lin, Luhrmann, Makarova, Makarova, Meister, Michaud, Michaud, Mourelatos, Neubauer, Nicholas Owen, Olga V. Makarova, Otter, Pellizzoni, Pellizzoni, Perkins, Rappsilber, Sharma, Sharma, Stark, Tanackovic, Wahl, Will, Will, Wolf, Wu, Wu, Xu, Young, Yu, Zhang, Zhou, Zillmann   +63 more
core   +2 more sources