Spinal Muscular Atrophy; Carrier Screening; SMN1; SMN2; MLPA - Articles

1000 sample comparison of MLPA and RT-PCR for carrier detection and diagnostic testing for Spinal Muscular Atrophy Type 1 (Articles)

Charles M. Strom, Ben Anderson, Mei Peng, Urjit Patel, Corey D. Braastad, Weimin Sun

Open Journal of Genetics Vol.3 No.2，June 25, 2013

DOI: 10.4236/ojgen.2013.32014 6,079 Downloads 9,192 Views Citations
An Expanded Carrier Screening Tool Enhances Preconception Cystic Fibrosis Screening in Infertile Couples (Articles)

Alexandra Higgins, Jason Flanagan, Tiffany Von Wald, Keith A. Hansen

Open Journal of Obstetrics and Gynecology Vol.5 No.7，July 24, 2015

DOI: 10.4236/ojog.2015.57059 3,478 Downloads 4,683 Views Citations
The Effects of Rufinamide on in Vitro Spinal Muscular Atrophy Model (Articles)

Shiori Ando, Arisu Sato, Michinori Funato, Kazuki Ohuchi, Satoshi Inagaki, Shinsuke Nakamura, Masamitsu Shimazawa, Hideo Kaneko, Hideaki Hideaki Hara

Pharmacology & Pharmacy Vol.10 No.4，April 15, 2019

DOI: 10.4236/pp.2019.104014 951 Downloads 1,744 Views Citations
Infantile Spinal Muscular Atrophy at the Albert Royer National Children’s Hospital Center in Dakar (Articles)

Guillaye Diagne, Khadim Bop, Sofiatou Dieye, Arame Faye, Fatou Ly, Amadou Lamine Fall

Open Journal of Pediatrics Vol.14 No.3，May 10, 2024

DOI: 10.4236/ojped.2024.143049 117 Downloads 449 Views Citations
Anesthetic Management of a Patient with Spinal Muscular Atrophy Type III Undergoing Emergent Caesarean Section: A Case Report (Articles)

Kwame Awuku, Achim Younker, Breta Osei-Bonsu, Joseph Nalbone, Aditi Master, Dongchen Li, Ming Xiong

Open Journal of Anesthesiology Vol.14 No.6，June 27, 2024

DOI: 10.4236/ojanes.2024.146014 84 Downloads 481 Views Citations
Atrophy and Fibrosis of Extra-Ocular Muscles in Anti-Acetylcholine Receptor Antibody Myasthenia Gravis (Articles)

Sean M. Gratton, Angela Herro, Jose Antonio Bermudez-Magner, John Guy

Open Journal of Ophthalmology Vol.4 No.4，October 9, 2014

DOI: 10.4236/ojoph.2014.44019 3,768 Downloads 4,890 Views Citations
Correlation between TG/HDL-C Ratio and Sarcopenia in Middle-Aged and Elderly People in Southwest China (Articles)

Lan Hou, Guangwu Huang, Yue Hu, Chaoyue Zhao, Jinting Wei, Meiqing Lu, Jinhua Wang, Caiyan Yang

Journal of Biosciences and Medicines Vol.12 No.10，September 27, 2024

DOI: 10.4236/jbm.2024.1210002 45 Downloads 264 Views Citations
Severe Generalized Spinal Cord Atrophy and Marfan Syndrome: A Case Report (Articles)

Huanquan Liao, Hongyan Zhou, Ling Chen

Open Access Library Journal Vol.2 No.11，November 12, 2015

DOI: 10.4236/oalib.1102165 1,229 Downloads 2,115 Views Citations
Correlation between Electrodiagnostic Study and Magnetic Resonance Imaging in Lumbar Radiculopathy Patients in a Tertiary Care Hospital (Articles)

Farhan Murtaza, Samana Haider, Amna Amin, Aroosa Zahid, Atiq Ur Rehman

Case Reports in Clinical Medicine Vol.12 No.10，October 9, 2023

DOI: 10.4236/crcm.2023.1210051 151 Downloads 803 Views Citations
TSC2 Deletions and Duplications: A Descriptive Study in Iranian Patients Affected with Tuberous Sclerosis (Articles)

Hossein Ramandi, Sayyed Mohammad Hossein Ghaderian, Parviz Toosi, Seyyed Hassan Tonekaboni, Ahmad Ebrahimi, Nasim Hatamnejadian

American Journal of Molecular Biology Vol.4 No.3，July 31, 2014

DOI: 10.4236/ajmb.2014.43018 4,736 Downloads 6,227 Views Citations
Abdominal Muscular Metastases of a Pulmonar Adenocarcinoma (Articles)

Joana de Castro Rocha, Pedro Nuno Brandão, Ana Rita Cruz, Vítor Valente

Advances in Lung Cancer Vol.4 No.2，June 30, 2015

DOI: 10.4236/alc.2015.42004 4,056 Downloads 5,186 Views Citations
Development of a Multiplex Ligation Dependent Probe Amplification (MLPA) Module for Simultaneous Detection of Five Genetically Modified Rapeseed Events (Articles)

Patrick Guertler, Ottmar Goerlich, Ulrich Busch

Agricultural Sciences Vol.5 No.6，May 23, 2014

DOI: 10.4236/as.2014.56055 4,797 Downloads 6,385 Views Citations
Histomorphometric study of role of lactoferrin in atrophy of the intestinal mucosa of rats (Articles)

M. Caruso, A. Demonte, V. A. Neves

Health Vol.4 No.12，December 26, 2012

DOI: 10.4236/health.2012.412198 5,290 Downloads 7,531 Views Citations
Assessment of Linear Discrimination and Nonlinear Discrimination Analysis in Diagnosis Alzheimer’s Disease in Early Stages (Articles)

Roya Golestani, Akbar Gharbali, Surena Nazarbaghi

Advances in Alzheimer's Disease Vol.9 No.2，June 28, 2020

DOI: 10.4236/aad.2020.92002 622 Downloads 1,742 Views Citations
Surgical Outcomes of Spinal Tumour: Experiences of 48 Cases at Referral Neurosurgery Hospital in Bangladesh (Articles)

Shamsuzzaman Mondle, Joynul Islam, Hafizur Rashid, A. T. M. Ashadullah, Fazle Elahi, Bayazidur Rahman, Kazi Hafiz Uddin, Abdullah Yusuf

Open Journal of Modern Neurosurgery Vol.6 No.3，July 29, 2016

DOI: 10.4236/ojmn.2016.63017 2,089 Downloads 3,330 Views Citations
An effective strategy for cloning the mitochondrial citrate carrier: identification, characterization and tissue distribution in silver eel (Articles)

Loredana Capobianco, Domenico Iacopetta, Chiara Carrisi, Marianna Madeo, Anna Rita Cappello, Vincenza Dolce

Advances in Bioscience and Biotechnology Vol.2 No.3，June 30, 2011

DOI: 10.4236/abb.2011.23025 4,774 Downloads 9,701 Views Citations
In-Situ Study of Silicon Single Crystals Conductivity under Electron Irradiation (Articles)

Hrant N. Yeritsyan, Aram A. Sahakyan, Sergey K. Nikoghosyan, Vachagan V. Harutyunyan, Karen Sh. Ohanyan, Norair E. Grigoryan, Eleonora A. Hakhverdyan, Aghasi S. Hovhannisyan, Vahan A. Sahakyan, Kamo A. Movsisyan, Artur V. Hovhannisyan

Journal of Modern Physics Vol.3 No.5，May 23, 2012

DOI: 10.4236/jmp.2012.35053 3,922 Downloads 6,896 Views Citations
Radiative Recombination Mechanisms of Large InAs/GaAs Quantum Dots (Articles)

Sandro Martini, Angelo E. B. Marques, Marcelo Marques, Alain A. Quivy, Lara Kühl Teles

World Journal of Condensed Matter Physics Vol.1 No.4，November 28, 2011

DOI: 10.4236/wjcmp.2011.14024 5,948 Downloads 11,147 Views Citations
Malnutrition Reduces Quality of Life and Performance in Hospitalized Elderly (Articles)

Patrizia D’Amelio, Barbara Rosso, Giorgia Fornelli, Chiara Eandi, Maria T. Maniero, Daniela Cobianchi, Valerio Dimonte, Manuela Rebellato, Giovanni C. Isaia

Open Journal of Endocrine and Metabolic Diseases Vol.4 No.6，June 18, 2014

DOI: 10.4236/ojemd.2014.46015 2,984 Downloads 4,819 Views Citations
Bone Mineral Density and Vitamin D Status in Children with Chronic Neurological Syndromes—Clinical Observations (Articles)

Elżbieta Jakubowska-Pietkiewicz, Gabriela Orzechowska, Elżbieta Woźniak, Joanna Kudzin, Ewa Toporowska-Kowalska

Case Reports in Clinical Medicine Vol.7 No.5，May 10, 2018

DOI: 10.4236/crcm.2018.75029 1,049 Downloads 1,940 Views Citations
This article belongs to the Special Issue on Osteoporosis

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