Works matching DE "SPINAL muscular atrophy"

Results: 2644

Biomarker Evolution in Pediatric SMA: Insights from CSF pNF-H Dynamics and SMN2 Copy Number During Nusinersen Therapy.

Published in:

Balneo & PRM Research Journal, 2025, v. 16, n. 1, p. 1, doi. 10.12680/balneo.2025.777

By:

Badina, Mihaela;
Bejan, Gabriel Cristian;
Mirea, Andrada;
Sporea, Corina;
Leanca, Madalina Cristina;
Nicolae, Georgiana;
Cioca, Ioana Elena;
Morcov, Maria Veronica;
Pellegrini, Angelo;
Bordea, Elena-Nicoleta

Publication type:

Article

The ABCs of neuropaediatrics.

Published in:

Developmental Medicine & Child Neurology, 2025, v. 67, n. 7, p. 828, doi. 10.1111/dmcn.16350

By:

Gerstl, Lucia;
Heinen, Florian

Publication type:

Article

Wearable sensors in paediatric neurology.

Published in:

Developmental Medicine & Child Neurology, 2025, v. 67, n. 7, p. 834, doi. 10.1111/dmcn.16239

By:

González Barral, Camila;
Servais, Laurent

Publication type:

Article

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03832-y

By:

Cattinari, Maria Grazia;
Pascual-Pascual, Samuel Ignacio;
de Lemus, Mencía;
Medina, Julita;
Dumont, María;
Rebollo, Pablo;
Vázquez-Costa, Juan Francisco

Publication type:

Article

Preparing for the new wave of intrathecal CNS therapies: innovations in drug delivery devices.

Published in:

Expert Review of Medical Devices, 2025, v. 22, n. 6, p. 525, doi. 10.1080/17434440.2025.2499154

By:

Menéndez González, Manuel

Publication type:

Article

Navigating Neurodegeneration: Integrating Biomarkers, Neuroinflammation, and Imaging in Parkinson's, Alzheimer's, and Motor Neuron Disorders.

Published in:

Biomedicines, 2025, v. 13, n. 5, p. 1045, doi. 10.3390/biomedicines13051045

By:

Tanaka, Masaru;
Battaglia, Simone;
Liloia, Donato

Publication type:

Article

Quality of Life, Caregiver Burden, and Symptoms of Depression and Anxiety in Parents of Children with Spinal Muscular Atrophy: A Comparison with Healthy Controls.

Published in:

Medicina (1010660X), 2025, v. 61, n. 5, p. 930, doi. 10.3390/medicina61050930

By:

Koyuncu, Zehra;
Sönmez Kurukaya, Seda;
Uluğ, Fitnat;
Dilek, Tuğçe Damla;
Zindar, Yılmaz;
Arslan, Büşra;
Tayşi, Berkay;
Anaç, Elif;
Balkanas, Mustafa;
Kesik, Sena;
Sak, Kevser;
Demirel, Ömer Faruk;
Doğangün, Burak;
Saltık, Sema

Publication type:

Article

Evolução da Função Motora em indivíduos com Atrofia Muscular Espinhal atendidos em um Hospital de Referência na Amazônia: Um Estudo Longitudinal.

Published in:

Revista Movimenta, 2025, v. 18, n. 1, p. 98

By:

marques da Silva, Letícia;
Sales Medeiros, Ana Carolina;
Alves Baia, Ellen;
Rodrigues Neto, Jorge Lopes;
Furtado da Silva, Tâmara;
da Silva Pinto, Denise

Publication type:

Article

Análise de Marcos Motores de duas Crianças com atrofia Muscular Espinal Tratados com Terapia Genética.

Published in:

Revista Movimenta, 2025, v. 18, n. 1, p. 84

By:

Alves Baia, Ellen;
Marques da Silva, Letícia;
Sales Medeiros, Ana Carolina;
Rodrigues Neto, Jorge Lopes;
da Silva Pinto, Denise;
Furtado da Silva, Tamara

Publication type:

Article

Aplicação da Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders em duas Crianças com atrofia Muscular Espinal Tratados com Terapia Genética.

Published in:

Revista Movimenta, 2025, v. 18, n. 1, p. 83

By:

Alves Baia, Ellen;
da Silva Pinto, Denise;
Marques da Silva, Letícia;
Sales Medeiros, Ana Carolina;
Monteiro Rodrigues Neto, Jorge Lopes;
Furtado da Silva, Tamara

Publication type:

Article

Comparing Classification Algorithms to Recognize Selected Gestures Based on Microsoft Azure Kinect Joint Data.

Published in:

Information (2078-2489), 2025, v. 16, n. 5, p. 421, doi. 10.3390/info16050421

By:

Funken, Marc;
Hanne, Thomas

Publication type:

Article

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.

Published in:

Genes, 2025, v. 16, n. 5, p. 585, doi. 10.3390/genes16050585

By:

Škarica, Mario;
Acsadi, Gyula;
Živković, Sasha A.

Publication type:

Article

A Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions †.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4532, doi. 10.3390/ijms26104532

By:

Tan, Vivienne J.;
Liang, Ying;
Tan, Arnold S.;
Wong, Simin;
Asherah, Nur;
Chua, Pengyian;
Lee, Caroline G.;
Choolani, Mahesh A.;
Dang, Truong;
Chong, Samuel S.

Publication type:

Article

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 269, doi. 10.1007/s10048-006-0051-3

By:

Scarciolla, Oronzo;
Stuppia, Liborio;
Angelis, Maria;
Murru, Stefania;
Palka, Chiara;
Giuliani, Rossella;
Pace, Marta;
Muzio, Antonio;
Torrente, Isabella;
Morella, Annunziata;
Grammatico, Paola;
Giacanelli, Manlio;
Rosatelli, Maria;
Uncini, Antonino;
Dallapiccola, Bruno

Publication type:

Article

Combined spinal-epidural anesthesia in a patient with spinal muscular atrophy type II undergoing a cesarean section: A case report.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 4, p. 431, doi. 10.2298/VSP180224074K

By:

Krušić, Slavica;
Nikolić, Branka;
Maglić, Rastko

Publication type:

Article

Autism in spinal muscular atrophy: comorbidity or a coincidental state?

Published in:

2013

By:

Gul, Hesna;
Ugur, Cagatay;
Gurkan, Cihat Kagan

Publication type:

Abstract

Leiomyosarcoma Breast with Extensive Metastasis: a Case Report.

Published in:

Indian Journal of Surgery, 2021, v. 83, n. 2, p. 542, doi. 10.1007/s12262-020-02242-7

By:

Kumar, Bhuwan;
Singh, Rajdeep;
Agarwal, P.N.;
Mandal, Shramana

Publication type:

Article

A Novel Mutation Associated with Severe Centronuclear Myopathy in a Neonate.

Published in:

2024

By:

Gangadaran, Prabakaran;
Choudhary, Sushil

Publication type:

Letter

Hirayama Disease: The Role of the Neuroradiologist to Confirm the Diagnosis and Correlation with Electromyography.

Published in:

Neurology India, 2024, v. 72, n. 2, p. 456, doi. 10.4103/ni.ni_817_22

By:

Freitas, Leonardo F.;
Duarte, Márcio L.;
Machado, Paulo H. Coelho;
de Carvalho Sá, Francisco L.;
Machado, Raylla M. Moreira C.;
da Silva, Mayara O.

Publication type:

Article

Ventral Root Atrophy in Spine Magnetic Resonance Imaging in Spinal Muscular Atrophy: A New Biomarker?

Published in:

Neurology India, 2023, v. 71, n. 3, p. 568, doi. 10.4103/0028-3886.378700

By:

Gupta, Juhi;
Gupta, Rishabh;
Tambi, Ayush;
Bhandari, Anu;
Sharma, Jagdish Narain

Publication type:

Article

Spinal Muscular Atrophy: Autopsy Based Neuropathological Demonstration.

Published in:

2020

By:

Thirunavukkarasu, Balamurugan;
Gupta, Kirti;
Bansal, Akriti;
Dhanasekaran, Narendran;
Baranwal, Arun

Publication type:

journal article

Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 127, doi. 10.1007/s10815-023-02991-w

By:

Sun, Yanan;
Ma, Songyan;
Xiao, Juan;
Wu, Jianli;
Wu, Yuanyuan;
Shi, Xinwei;
Li, Shufang;
Feng, Ling;
Chen, Suhua

Publication type:

Article

Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 4, p. 793, doi. 10.1007/s10815-023-02738-7

By:

Khorshid, Arian;
Boyd, Alleigh L. H.;
Behr, Barry;
Zhao, Qianying;
Alvero, Ruben;
Bavan, Brindha

Publication type:

Article

New Software for HTS.

Published in:

Bio-IT World, 2005, v. 4, n. 2, p. 16

By:

Uehling, Mark D.

Publication type:

Article

Therapeutic antisense oligonucleotides for movement disorders.

Published in:: Medicinal Research Reviews, 2021, v. 41, n. 5, p. 2656, doi. 10.1002/med.21706
Publication type:: Article

Modern approaches in gene therapy of motor neuron diseases.

Published in:: Medicinal Research Reviews, 2021, v. 41, n. 5, p. 2634, doi. 10.1002/med.21705
Publication type:: Article

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene (Communicated by Graham R. Taylor).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245

By:

Ivon Cuscó;
Eva López;
Carolina Soler-Botija;
María Jesús Barceló;
Montserrat Baiget;
Eduardo F. Tizzano

Publication type:

Article

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 geneCommunicated by Graham R. Taylor.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245

By:

Ivon Cuscó;
Eva López;
Carolina Soler?Botija;
María Jesús Barceló;
Montserrat Baiget;
Eduardo F. Tizzano

Publication type:

Article

Determination of SMN1 and SMN2 copy number using TaqMan technology (Communicated by Graham Taylor).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221

By:

Dirk Anhuf;
Thomas Eggermann;
Sabine Rudnik-Schöneborn;
Klaus Zerres

Publication type:

Article

Determination of SMN1 and SMN2 copy number using TaqMan™ technologyCommunicated by Graham Taylor.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221

By:

Dirk Anhuf;
Thomas Eggermann;
Sabine Rudnik‐Schöneborn;
Klaus Zerres

Publication type:

Article

Intravenous bisphosphonate therapy in children with spinal muscular atrophy.

Published in:

Osteoporosis International, 2020, v. 31, n. 5, p. 995, doi. 10.1007/s00198-019-05227-9

By:

Nasomyont, N.;
Hornung, L.N.;
Wasserman, H.

Publication type:

Article

Investigation of Awareness Level of Spinal Muscular Atrophy Disease in Turkish Society.

Published in:

Haydarpasa Numune Medical Journal, 2023, v. 63, n. 2, p. 137, doi. 10.14744/hnhj.2021.15945

By:

Coşkunpınar, Ender;
Ordu, Yusuf;
İraz, Burak;
Yiğit, Emine;
Yılmaz, Buhari;
Yıldırım, Halime

Publication type:

Article

Upper Extremity Examination for Neuromuscular Diseases (U-EXTEND): Protocol for a Multimodal Feasibility Study.

Published in:

JMIR Research Protocols, 2022, v. 11, n. 10, p. 224, doi. 10.2196/40856

By:

Gutierrez, Robert;
McCrady, Allison;
Masterson, Chelsea;
Tolman, Sarah;
Boukhechba, Mehdi;
Barnes, Laura;
Blemker, Silvia;
Scharf, Rebecca

Publication type:

Article

Spinal Muscular Atrophy Type 1 Presented with Clinical Sepsis: A Case Report and Review of Literature.

Published in:

2023

By:

Kulkarni, Ketaki;
Gadham, Ravi Varma;
Chandel, Anuragsingh;
Jategaonkar, Smita;
Chauhan, Varsha;
Jain, Manish

Publication type:

Case Study

CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 51, doi. 10.3390/ijns10030051

By:

Lee, Francis K.;
Greene, Christopher;
Mercer, Kristina;
Taylor, Jennifer;
Yazdanpanah, Golriz;
Vogt, Robert;
Lee, Rachel;
Cuthbert, Carla;
Cordovado, Suzanne

Publication type:

Article

Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 11, doi. 10.3390/ijns11010011

By:

De Felipe, Beatriz;
Delgado-Pecellin, Carmen;
Lopez-Lobato, Mercedes;
Olbrich, Peter;
Blanco-Lobo, Pilar;
Marquez-Fernandez, Josefina;
Salamanca, Carmen;
Mendoza, Beatriz;
Castro-Serrano, Rocio;
Duque, Cristina;
Moreno-Prieto, Mariana;
Madruga-Garrido, Marcos;
Lucena, Jose M.;
Fernandez, Raquel M.;
Ruiz-Camacho, Maria;
Varona, Alberto;
Neth, Olaf

Publication type:

Article

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 10, doi. 10.3390/ijns11010010

By:

Rodrigues, Diogo;
Marcão, Ana;
Lopes, Lurdes;
Ventura, Ana;
Faria, Teresa;
Ferrão, Anabela;
Gonçalves, Carolina;
Kjöllerström, Paula;
Castro, Ana;
Fraga, Sofia;
Almeida, Marta;
Maia, Tabita;
Gomes, João;
Lachado, Ana;
Guerra, Isabel;
Ferreira, Fátima;
Trigo, Fernanda;
Bento, Celeste;
Vilarinho, Laura

Publication type:

Article

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 7, doi. 10.3390/ijns11010007

By:

Berzal-Serrano, Alba;
García-Bohórquez, Belén;
Aller, Elena;
Jaijo, Teresa;
Pitarch-Castellano, Inmaculada;
Rausell, Dolores;
García-García, Gema;
Millán, José M.

Publication type:

Article

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 50, doi. 10.3390/ijns10030050

By:

Šimić, Darija;
Šarić, Ana;
Škaričić, Ana;
Lehman, Ivan;
Bunoza, Branka;
Rako, Ivana;
Fumić, Ksenija

Publication type:

Article

Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 58, doi. 10.3390/ijns10030058

By:

Zaidman, Craig M.;
Crockett, Cameron D.;
Wedge, Ethan;
Tabatabai, Grace;
Goedeker, Natalie

Publication type:

Article

Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 57, doi. 10.3390/ijns10030057

By:

Brkušanin, Miloš;
Garai, Nemanja;
Karanović, Jelena;
Šljivančanin Jakovljević, Tamara;
Dimitrijević, Aleksandra;
Jovanović, Kristina;
Mitrović, Tanja Lazić;
Miković, Željko;
Brajušković, Goran;
Nikolić, Dimitrije Mihailo;
Savić-Pavićević, Dušanka

Publication type:

Article

A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 54, doi. 10.3390/ijns10030054

By:

Wong, Kristen N.;
McIntyre, Melissa;
Cook, Sabina;
Hart, Kim;
Wilson, Amelia;
Moldt, Sarah;
Rohrwasser, Andreas;
Butterfield, Russell J.

Publication type:

Article

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 34, doi. 10.3390/ijns10020034

By:

Lietsch, Mei;
Chan, Kee;
Taylor, Jennifer;
Lee, Bo Hoon;
Ciafaloni, Emma;
Kwon, Jennifer M.;
Waldrop, Megan A.;
Butterfield, Russell J.;
Rathore, Geetanjali;
Veerapandiyan, Aravindhan;
Kapil, Arya;
Parsons, Julie A.;
Gibbons, Melissa;
Brower, Amy

Publication type:

Article

Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 49, doi. 10.3390/ijns10030049

By:

Cooper, Katy;
Nalbant, Gamze;
Sutton, Anthea;
Harnan, Sue;
Thokala, Praveen;
Chilcott, Jim;
McNeill, Alisdair;
Bessey, Alice

Publication type:

Article

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg †.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 9, doi. 10.3390/ijns10010009

By:

Kiselev, Anton;
Maretina, Marianna;
Shtykalova, Sofia;
Al-Hilal, Haya;
Maslyanyuk, Natalia;
Plokhih, Mariya;
Serebryakova, Elena;
Frolova, Marina;
Shved, Natalia;
Krylova, Nadezhda;
Il'ina, Arina;
Freund, Svetlana;
Osinovskaya, Natalia;
Sultanov, Iskender;
Egorova, Anna;
Lobenskaya, Anastasia;
Koroteev, Alexander;
Sosnina, Irina;
Gorelik, Yulia;
Bespalova, Olesya

Publication type:

Article

An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 33, doi. 10.3390/ijns10020033

By:

Chung, Wendy K.;
Kanne, Stephen M.;
Hu, Zhanzhi

Publication type:

Article

Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 57, doi. 10.3390/ijns9040057

By:

Iskrov, Georgi;
Angelova, Vyara;
Bochev, Boyan;
Valchinova, Vaska;
Gencheva, Teodora;
Dzhuleva, Desislava;
Dichev, Julian;
Nedkova, Tanya;
Palkova, Mariya;
Tyutyukova, Anelia;
Hristova, Maria;
Hristova-Atanasova, Eleonora;
Stefanov, Rumen

Publication type:

Article

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 42, doi. 10.3390/ijns9030042

By:

Niri, Farshad;
Nicholls, Jessie;
Baptista Wyatt, Kelly;
Walker, Christine;
Price, Tiffany;
Kelln, Rhonda;
Hume, Stacey;
Parboosingh, Jillian;
Lilley, Margaret;
Kolski, Hanna;
Ridsdale, Ross;
Muranyi, Andrew;
Mah, Jean K.;
Bulman, Dennis E.

Publication type:

Article

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 29, doi. 10.3390/ijns9020029

By:

Mikhalchuk, Kristina;
Shchagina, Olga;
Chukhrova, Alena;
Zabnenkova, Viktoria;
Chausova, Polina;
Ryadninskaya, Nina;
Vlodavets, Dmitry;
Kutsev, Sergei I.;
Polyakov, Alexander

Publication type:

Article

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 20, doi. 10.3390/ijns9020020

By:

Singh, Sikha;
Ojodu, Jelili;
Kemper, Alex R.;
Lam, Wendy K. K.;
Grosse, Scott D.

Publication type:

Article