Works matching DE "SPINAL muscular atrophy"

Results: 2669

Eskişehir Osmangazi Üniversitesi Tıp Fakültesi Hastanesi’nde Nusinersen Sodyum Tedavisi Alan Spinal Musküler Atrofili Olgularının Özellikleri.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 52

By:

Özgün, Zeynep Ece;
Yücel Şen,Özlem Uğur, Arife Derda;
Baysal, Ahmet;
Çarman, Kürşat Bora;
Yarar, Coşkun

Publication type:

Article

Merkezi Sinir Sistemi Enfeksiyonu İlişkili Akut Semptomatik Nöbetler.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 52

By:

Koçak, Ahmet;
Öz, Fatma Nur;
Yüksel, Deniz

Publication type:

Article

Current perspectives on gene therapy and its involvement in curing genetic disorders.

Published in:

Human Genetics, 2025, v. 144, n. 7, p. 695, doi. 10.1007/s00439-025-02757-7

By:

Nishad, Shireen;
Dongare, Dipali;
Saha, Sayani;
Anil, Raskar Dhanashri;
Srivastava, Nidhi;
Dey, Abhishek

Publication type:

Article

An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 32, doi. 10.3390/ijns11020032

By:

Sandelowsky, Samantha A.;
McEwen, Alison;
Russell, Jacqui;
Boggs, Kirsten;
Junek, Rosie;
Ellaway, Carolyn;
Selvanathan, Arthavan;
Farrar, Michelle A.;
Bhattacharya, Kaustuv

Publication type:

Article

Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 29, doi. 10.3390/ijns11020029

By:

Hegedűs, Krisztina;
Lénárt, István;
Xue, Andrea;
Monostori, Péter Béla;
Baráth, Ákos;
Mikos, Borbála;
Udvari, Szabolcs;
Géresi, Adrienn;
Szabó, Attila József;
Bereczki, Csaba;
Molnár, Mária Judit;
Szatmári, Ildikó

Publication type:

Article

Families' Perceptions of Powered Mobility for Participation in Children With Spinal Muscular Atrophy Type 1: A Photovoice Study.

Published in:

Health Expectations, 2025, v. 28, n. 3, p. 1, doi. 10.1111/hex.70278

By:

Coello‐Villalón, María;
Díaz‐López, Cristina I.;
López‐Muñoz, Purificación;
Romay‐Barrero, Helena;
Pacheco‐da‐Costa, Soraya;
Plasencia‐Robledo, María;
Longo, Egmar;
Palomo‐Carrión, Rocío

Publication type:

Article

Myostatin Modulation in Spinal Muscular Atrophy: A Systematic Review of Preclinical and Clinical Evidence.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 12, p. 5858, doi. 10.3390/ijms26125858

By:

Gnazzo, Martina;
Pisanò, Giulia;
Baldini, Valentina;
Giacomelli, Giovanna;
Scullin, Silvia;
Piccolo, Benedetta;
Turco, Emanuela Claudia;
Esposito, Susanna;
Pera, Maria Carmela

Publication type:

Article

Genetics.

Published in:

Indian Pediatrics, 2025, v. 62, n. 7, p. 549, doi. 10.1007/s13312-025-00092-8

By:

Shriyan, Rhea

Publication type:

Article

Joint Scientific Consultation Eligibility Criterion: Hubris or Naïveté.

Published in:

Journal of Market Access & Health Policy, 2025, v. 13, n. 2, p. 22, doi. 10.3390/jmahp13020022

By:

Toumi, Mondher;
Falissard, Bruno;
Boyer, Laurent;
Auquier, Pascal

Publication type:

Article

Highlights from the Brain Conference 2025 Open Access.

Published in:

Brain Communications, 2025, v. 7, n. 3, p. 1, doi. 10.1093/braincomms/fcaf143

By:

Marescotti, Manuela

Publication type:

Article

Surgical Access for Intrathecal Therapy in Spinal Muscular Atrophy with Spinal Fusion: Long-Term Outcomes of Lumbar Laminectomy.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 12, p. 4280, doi. 10.3390/jcm14124280

By:

Potaczek, Tomasz;
Duda, Sławomir;
Adamczyk, Jakub

Publication type:

Article

Incidence of Homozygous SMN2 Deletion in Japan: Cross-Reactivity of SMN2 Primers with SMN1 Sequence Causes False Negatives in Real-Time PCR Screening.

Published in:

Genes, 2025, v. 16, n. 6, p. 712, doi. 10.3390/genes16060712

By:

Sakima, Makoto;
Bouike, Yoshihiro;
Wada, Shin-Ichi;
Nakamae, Masami;
Noguchi, Yoriko;
Bo, Ryosuke;
Awano, Hiroyuki;
Oba, Jumpei;
Nishio, Hisahide

Publication type:

Article

Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.

Published in:

Genes, 2025, v. 16, n. 6, p. 671, doi. 10.3390/genes16060671

By:

Lee, Eric;
Orton, Kaylee;
Kwan, Edward;
Faga, Claire;
Le, Trang;
Shaheen, Ranad;
Nair, Vivek;
Cliffe, Simon

Publication type:

Article

Decoding Neuromuscular Disorders: The Complex Role of Genetic and Epigenetic Regulators.

Published in:

Genes, 2025, v. 16, n. 6, p. 622, doi. 10.3390/genes16060622

By:

Roque-Ramírez, Bladimir;
Ríos-López, Karla Estefanía;
López-Hernández, Luz Berenice

Publication type:

Article

Evaluation of Sensory and Motor Function in Spinal and Bulbar Muscular Atrophy Using Quiet Stance and Reactive Postural Control.

Published in:

Neurology International, 2025, v. 17, n. 6, p. 79, doi. 10.3390/neurolint17060079

By:

Shrader, Joseph A.;
Sansare, Ashwini;
Niemic, Allison C.;
Jiménez-Silva, Rafael;
Woolstenhulme, Joshua G.;
Joe, Galen O.;
Jacobs, Uma;
Kokkinis, Angela;
Fischbeck, Kenneth;
Grunseich, Chris;
Zampieri, Cris

Publication type:

Article

Identifying Clinical Measures Related to Falls in Ambulatory Patients with Spinal and Bulbar Muscular Atrophy.

Published in:

Neurology International, 2025, v. 17, n. 6, p. 80, doi. 10.3390/neurolint17060080

By:

Shrader, Joseph A.;
Niemic, Allison C.;
Jiménez-Silva, Rafael;
Woolstenhulme, Joshua G.;
Joe, Galen O.;
Jacobs, Uma;
Sansare, Ashwini;
Kokkinis, Angela;
Fischbeck, Kenneth;
Grunseich, Chris;
Zampieri, Cris

Publication type:

Article

Aquatic Therapeutic Exercises for Individuals With Neurological Disorders: Evidence-Based Approach.

Published in:

Journal of Aquatic Physical Therapy, 2018, v. 26, n. 2, p. 11

By:

Salem, Yasser;
Liu, Howe;
Elokda, Ahmed;
Quiben, Myles;
Holmes, Clayton

Publication type:

Article

In this issue April 2023.

Published in:: Pediatric Anesthesia, 2023, v. 33, n. 4, p. 271, doi. 10.1111/pan.14648
Publication type:: Article

Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen.

Published in:

Pediatric Anesthesia, 2023, v. 33, n. 4, p. 282, doi. 10.1111/pan.14630

By:

Salerno, Annalisa;
Picconi, Enzo;
Genovese, Orazio;
Piastra, Marco;
Pulitanò, Silvia M.;
Tosi, Federica;
Mancino, Aldo;
Pane, Marika;
De Sanctis, Roberto;
Carlini, Debora;
Mercuri, Eugenio M.;
Conti, Giorgio

Publication type:

Article

Prepare for the worst...Hope for the best.

Published in:

Pediatric Anesthesia, 2023, v. 33, n. 4, p. 274, doi. 10.1111/pan.14613

By:

Yaster, Myron;
Maxwell, Lynne G.

Publication type:

Article

Intrathecal nusinersen administration: Is anesthesia really needed?

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 2, p. 249, doi. 10.1111/pan.14048

By:

Camporesi, Anna;
Mandelli, Anna;
Melloni, Elisa;
Polaner, David

Publication type:

Article

Anesthetic management of pediatric patients undergoing intrathecal nusinersen administration for treatment of spinal muscular atrophy: A single‐center experience.

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 2, p. 160, doi. 10.1111/pan.13964

By:

Brollier, Lauren D.;
Matuszczak, Maria;
Marri, Tejaswi;
Carbajal, Jael G.;
Moorman, Andrew T.;
Sorial, Emad M.;
Jain, Ranu

Publication type:

Article

WRAP53 Is Essential for Cajal Body Formation and for Targeting the Survival of Motor Neuron Complex to Cajal Bodies.

Published in:

PLoS Biology, 2010, v. 8, n. 11, p. 1, doi. 10.1371/journal.pbio.1000521

By:

Mahmoudi, Salah;
Henriksson, Sofia;
Weibrecht, Irene;
Smith, Stephen;
Söderberg, Ola;
Strömblad, Staffan;
Wiman, Klas G.;
Farnebo, Marianne

Publication type:

Article

Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon.

Published in:

PLoS Biology, 2007, v. 5, n. 4, p. 0729, doi. 10.1371/journal.pbio.0050073

By:

Yimin Hua;
Vickers, Timothy A.;
Baker, Brenda F.;
Bennett, C. Frank;
Krainer, Adrian R.

Publication type:

Article

Ultra-low radiation dose protocol for CT-guided intrathecal nusinersen injections for patients with spinal muscular atrophy and severe scoliosis.

Published in:

Neuroradiology, 2021, v. 63, n. 4, p. 539, doi. 10.1007/s00234-021-02643-9

By:

Rosiak, Grzegorz;
Lusakowska, Anna;
Milczarek, Krzysztof;
Konecki, Dariusz;
Fraczek, Anna;
Rowinski, Olgierd;
Kostera-Pruszczyk, Anna

Publication type:

Article

Radiation exposure of image-guided intrathecal administration of nusinersen to adult patients with spinal muscular atrophy.

Published in:

Neuroradiology, 2019, v. 61, n. 5, p. 565, doi. 10.1007/s00234-019-02189-x

By:

Oldenburg, D.;
Guberina, N.;
Stolte, B.;
Kizina, K.;
Stenzel, E.;
Radbruch, A.;
Kleinschnitz, C.;
Hagenacker, T.;
Forsting, M.;
Mönninghoff, C.

Publication type:

Article

Biomechanics of cervical laminoplasty: kinetic studies comparing different surgical techniques, temporal effects and the degree of level involvement.

Published in:

European Spine Journal, 2004, v. 13, n. 3, p. 213, doi. 10.1007/s00586-004-0684-6

By:

Puttlitz, Christian M.;
Deviren, Vedat;
Smith, Jason A.;
Kleinstueck, Frank S.;
Tran, Quy N. H.;
Thurlow, Ralph W.;
Eisele, Pamela;
Lotz, Jeffrey C.

Publication type:

Article

Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases.

Published in:

2021

By:

Reyngoudt, Harmen;
Marty, Benjamin;
Boisserie, Jean-Marc;
Le Louër, Julien;
Koumako, Cedi;
Baudin, Pierre-Yves;
Wong, Brenda;
Stojkovic, Tanya;
Béhin, Anthony;
Gidaro, Teresa;
Allenbach, Yves;
Benveniste, Olivier;
Servais, Laurent;
Carlier, Pierre G.

Publication type:

journal article

Taking the knife to neurodegeneration: a review of surgical gene therapy delivery to the CNS.

Published in:

Acta Neurochirurgica, 2024, v. 166, n. 1, p. 1, doi. 10.1007/s00701-024-06028-8

By:

Perera, Andrea;
Brock, Olivier;
Ahmed, Aminul;
Shaw, Chris;
Ashkan, Keyoumars

Publication type:

Article

Gene Therapy in Pediatric Orthopedics.

Published in:

Osteology, 2024, v. 4, n. 1, p. 33, doi. 10.3390/osteology4010003

By:

Olaonipekun, Emmanuel;
Lisyansky, Anthony;
Olaonipekun, Robin;
Merabia, Bouchra Ghania;
Gaber, Karim;
Kishta, Waleed

Publication type:

Article

PRZEGLĄD PIŚMIENNICTWA.

Published in:

Polski Przegląd Neurologiczny, 2024, v. 20, n. 4, p. 242, doi. 10.5603/ppn.103875

By:

Marschollek, Karol

Publication type:

Article

Opuszkowo-rdzeniowy zanik mięśni -- opis dwóch przypadków klinicznych.

Published in:

Polski Przegląd Neurologiczny, 2024, v. 20, n. 2, p. 129, doi. 10.5603/ppn.97231

By:

Dewerenda-Sikora, Milena;
Kokot, Anna;
Migacz, Agata;
Lasek-Bal, Anetta

Publication type:

Article

OD REDAKCJI.

Published in:

Polski Przegląd Neurologiczny, 2024, v. 20, n. 2, p. V, doi. 10.5603/ppn.100734

By:

Budrewicz, Sławomir;
Nowakowska-Kotas, Marta

Publication type:

Article

The impact of neurological impairment and tone on hip joint development.

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 6, p. 615, doi. 10.1177/18632521241291768

By:

Ciftci, Sadettin;
Almeida da Silva, Luiz Carlos;
Howard, Jason J;
Shrader, Michael Wade;
Miller, Freeman

Publication type:

Article

Femoral neck–shaft angle changes based on the severity of neurologic impairment in children with cerebral palsy and spinal muscular atrophy.

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 5, p. 523, doi. 10.1177/18632521241277023

By:

Almeida da Silva, Luiz Carlos;
Hori, Yusuke;
Kaymaz, Burak;
Rogers, Kenneth J;
Trionfo, Arianna;
Bowen, James Richard;
Howard, Jason J;
Shrader, Michael Wade;
Miller, Freeman

Publication type:

Article

Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 3, p. 322, doi. 10.1177/18632521241235028

By:

Yasar, Niyazi Erdem;
Ozdemir, Guzelali;
Uzun Ata, Elif;
Ayvali, Mustafa Okan;
Ata, Naim;
Ulgu, Mahir;
Dumlupınar, Ebru;
Birinci, Suayip;
Bingol, Izzet;
Bekmez, Senol

Publication type:

Article

Safety and efficacy of growth-friendly instrumentation for early-onset scoliosis in patients with spinal muscular atrophy type 1 in the disease-modifying treatment era.

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 1, p. 26, doi. 10.1177/18632521231214780

By:

Cetik, Riza Mert;
Ovadia, Dror;
Mladenov, Kiril;
Kruyt, Moyo C;
Helenius, Ilkka;
Ahonen, Matti;
Studer, Daniel;
Yazici, Muharrem

Publication type:

Article

The influence of tone on proximal femoral and acetabular geometry in neuromuscular hip displacement: A comparison of cerebral palsy and spinal muscular atrophy.

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2022, v. 16, n. 2, p. 121, doi. 10.1177/18632521221084184

By:

Ulusaloglu, Armagan Can;
Asma, Ali;
Rogers, Kenneth J.;
Shrader, Michael Wade;
Graham, H. Kerr;
Howard, Jason J.

Publication type:

Article

A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation.

Published in:

NPJ Regenerative Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41536-020-0089-0

By:

Pei, Wuhong;
Xu, Lisha;
Chen, Zelin;
Slevin, Claire C.;
Pettie, Kade P.;
Wincovitch, Stephen;
NISC Comparative Sequencing Program;
Barnabas, Beatrice B.;
Black, Sean;
Bouffard, Gerard G.;
Brooks, Shelise Y.;
Coleman, Holly;
Dekhtyar, Lyudmila;
Guan, Xiaobin;
Han, Joel;
Ho, Shi-ling;
Legaspi, Richelle;
Maduro, Quino L.;
Masiello, Catherine A.;
McDowell, Jennifer C.

Publication type:

Article

Táplálásterápia SMA esetén.

Published in:

Gyermekgyógyászat, 2023, v. 74, n. 6, p. 380

By:

Judit, Czelecz;
Edina, Félegyházi

Publication type:

Article

Új korszak a veleszületett gerincvelõi izomsorvadás terén.

Published in:

Gyermekgyógyászat, 2023, v. 74, n. 3, p. 125

By:

Borbála, Mikos;
Ildikó, Szatmári;
Péter, Monostori;
Judit, Molnár Mária;
Csaba, Bereczki;
Attila, Szabó;
Katalin, Csõsz;
Béla, Muzsik;
János, Velkey György

Publication type:

Article

Immunmoduláció spinalis muscularis atrophia génpótló terápiája során.

Published in:

Gyermekgyógyászat, 2022, v. 73, n. 6, p. 464

By:

Borbála, Mikos;
Cecília, Schunk;
Réka, Balázsfi;
Antal, Dezsõfi-Gottl;
Edina, Bányász;
Rita, Jakus;
András, Fogarasi;
János, Velkey György

Publication type:

Article

Stranger Twins: A Tale of Resemblance and Contrast Between VAP Proteins.

Published in:

Contact (25152564), 2023, v. 6, p. 1, doi. 10.1177/25152564231183897

By:

Subra, Mélody;
Grimanelli, Zoé;
Gautier, Romain;
Mesmin, Bruno

Publication type:

Article

Speech therapy of a child with spinal muscular atrophy type 1 (SMA1): a case study.

Published in:

Logopedia Silesiana, 2021, n. 10, p. 1, doi. 10.31261/LOGOPEDIASILESIANA.2021.10.01.05

By:

CHILIŃSKA-PUŁKOWSKA, ALICJA;
KACZOROWSKA-BRAY, KATARZYNA

Publication type:

Article

Post-Marketing Safety of Spinal Muscular Atrophy Therapies: Analysis of Spontaneous Adverse Drug Reactions from EudraVigilance.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 9, p. 3173, doi. 10.3390/jcm14093173

By:

Belančić, Andrej;
Mas, Petar;
Miletić, Lara;
Kovačić Bytyqi, Barbara;
Vitezić, Dinko

Publication type:

Article

The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 23, p. 7366, doi. 10.3390/jcm13237366

By:

Stawicka, Elżbieta;
Skarżyńska, Urszula;
Lipiec, Agata;
Mazanowska, Natalia;
Stankiewicz, Joanna;
Gos, Monika;
Wyszczelska-Namięta, Milena

Publication type:

Article

Reverse Split Hand as a Neurophysiological Hallmark of Spinal Muscular Atrophy.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 22, p. 6881, doi. 10.3390/jcm13226881

By:

Vacchiano, Veria;
Morabito, Francesca;
Bonan, Luigi;
Teodorani, Luca;
Faini, Claudia;
Rizzo, Giovanni;
Liguori, Rocco

Publication type:

Article

SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 21, p. 6402, doi. 10.3390/jcm13216402

By:

Lamadrid-González, José;
Castellar-Leones, Sandra;
Contreras-Velásquez, Julio César;
Bermúdez, Valmore

Publication type:

Article

The Impact of Nusinersen Treatment on Respiratory Function in Patients with Spinal Muscular Atrophy: A Systematic Review.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 21, p. 6306, doi. 10.3390/jcm13216306

By:

Aldukain, Mona;
Aldukain, Ali;
Hobani, Assal;
Barakat, Abdulmalik;
Alsayyed, Lujain;
Alomar, Maher;
Zain Al-Abeden, Maha Saad;
Alzoum, Nora;
Asseri, Ali Alsuheel

Publication type:

Article

AMEsobreRuedas Early Powered Mobility in Children with Spinal Muscular Atrophy Type I: Protocol of a Randomized Controlled Trial †.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4875, doi. 10.3390/jcm13164875

By:

Palomo-Carrión, Rocío;
López-Muñoz, Purificación;
Longo, Egmar;
Romay-Barrero, Helena;
Ródenas-Martínez, Maribel;
Plasencia-Robledo, María;
de Andrés-Beltrán, Beatriz;
Coello-Villalón, María;
Díaz-López, Cristina;
Pacheco-da-Costa, Soraya

Publication type:

Article