Results 71 to 80 of about 6,859 (228)

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells [PDF]

, 2017
Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the
Aráuzo-Bravo, M. (Marcos), Bergsma, A.J. (Atze), in ‘t Groen, S.L.M. (Stijn L.M.), Pijnappel, W.W.M.P. (Pim), Ploeg, A.T. (Ans) van der, Schöler, H.R. (Hans), Van Gestel, T.J.M. (Tom J.M.), Wal, E. (Erik) van der, Zaehres, H. (Holm)   +8 more
core   +1 more source

Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen [PDF]

, 2020
Available online 17 May 2020.ArticleJournal of the Neurological Sciences.415:116901(2020)journal ...
Morizumi, Teruya, Nakamura, Katsuya, Ozawa, Kazuki, Sekijima, Yoshiki, Takasone, Ken, Ueno, Akihiro, Yoshinaga, Tsuneaki   +6 more
core   +1 more source

Nusinersen bei spinaler Muskelatrophie [PDF]

Nervenheilkunde, 2019
ZUSAMMENFASSUNGFür die 5q-assoziierte spinale Muskelatrophie (SMA) ist mit dem Antisense-Oligonukleotid Nusinersen seit Juni 2017 in Europa die erste kausale Therapie verfügbar. Die Zulassung beruht auf Phase-III-Studien bei Kindern und umfasst altersunabhängig alle genetisch gesicherten Subtypen der SMA. Erfahrungen in der Anwendung von Nusinersen bei
Olivia Schreiber-Katz, Susanne Petri, Friederich Götz, Omar Abu-Fares, Alma Osmanovic   +4 more
openaire   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Identification of pathways of degeneration and protection in motor neuron diseases [PDF]

, 2017
Motor neuron diseases preferentially affect specific neuronal populations with distinct clinical features even if disease-causing genes are expressed in many cell types. In spinal muscular atrophy (SMA), somatic motor neurons are selectively vulnerable
Nichterwitz, Susanne
core   +1 more source

DATASET RELATED TO ARTICLE "Muscle quantitative MRI in adult SMA patients on nusinersen treatment_ a longitudinal study"

, 2023
Annamaria Gallone, Silvia Bonanno, Riccardo Zanin, Domenico Aquino, Lorenzo Maggi   +4 more
openalex   +3 more sources

Nusinersen for SMA: expanded access programme [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2018
BackgroundSpinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1.MethodsAn ...
Farrar, MA, Teoh, HL, Carey, KA, Cairns, A, Forbes, R, Herbert, K, Holland, S, Jones, KJ, Menezes, MP, Morrison, M, Munro, K, Villano, D, Webster, R, Woodcock, IR, Yiu, EM, Sampaio, H, Ryan, MM   +16 more
openaire   +3 more sources

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Reply to “Extending the Interpretation of Biomarker Dynamics in SOD1‐ALS Proteomics”

Annals of Neurology, EarlyView.
Christina Steffke, David Brenner, Alberto Catanese   +2 more
wiley   +1 more source