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 5,483 Downloads 8,506 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 3,321 Downloads 4,229 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 781 Downloads 1,477 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 3,508 Downloads 4,403 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 1,066 Downloads 1,670 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 4,526 Downloads 5,498 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 3,857 Downloads 4,699 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 4,478 Downloads 6,036 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 4,957 Downloads 6,902 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 401 Downloads 1,184 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 1,914 Downloads 3,093 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 4,555 Downloads 9,223 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 3,740 Downloads 6,439 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 5,617 Downloads 10,781 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 2,762 Downloads 4,196 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 908 Downloads 1,624 Views Citations
This article belongs to the Special Issue on Osteoporosis
Respiratory Muscle Strength Evaluation in Healthy Adult and Elderly Women—Respiratory Muscle Strength Assessment in Adult and Elderly (Articles)

Maria Clara de Souza Pereira Gama Maciel, Cássio Daniel Araújo da Silva, Fernanda Figueiroa Sanchez, Jamilly Rebouças Demosthenes Marques, Pablo Costa Cortez, Camila Miriam Suemi Sato Barros do Amaral, Naylla Morais de Souza, Roberta Lins Gonçalves

Health Vol.10 No.8，August 3, 2018

DOI: 10.4236/health.2018.108077 1,330 Downloads 2,841 Views Citations
Paradoxical prosopagnosia in semantic dementia (Articles)

Sven-Erik Fernaeus, Per Ostberg, Lars-Olof Wahlund, Nenad Bogdanovic

Advances in Alzheimer's Disease Vol.1 No.3，December 28, 2012

DOI: 10.4236/aad.2012.13008 4,437 Downloads 7,869 Views Citations
Overexpression of MyoD Attenuates Denervated Rat Skeletal Muscle Atrophy and Dysfunction (Articles)

Wei-Min Xiong, Jia-Hui Huang, Lei Xie, Yuan Qiao, Xin-Min Lu, Jiang-Chen Peng, Jin-Jia Hu

Neuroscience and Medicine Vol.3 No.4，December 31, 2012

DOI: 10.4236/nm.2012.34048 4,746 Downloads 6,544 Views Citations
A controlled, randomized, open label study in postmenopausal women to assess the safety and the efficacy of a vaginal moisturizer: An instrumental approach (Articles)

A. Sparavigna, B. Tenconi, I. De Ponti, A. Bulgheroni, F. Scarci

Open Journal of Obstetrics and Gynecology Vol.3 No.4，May 23, 2013

DOI: 10.4236/ojog.2013.34073 4,040 Downloads 5,884 Views Citations

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