| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ali Khanbazi, Maryam Beheshtian, Maryam Azad, Masoumeh Akbari Kelishomi, Fariba Afroozan, Fatemeh Fatehi, Khadijeh Noudehi, Shima Zamanian Najafabadi, Mohammadamin Omrani, Haleh Habibi, Maryam Taghdiri, Isa Abdi Rad, Shahriar Nafissi, Aria Jankhah, Hilda Yazdan, Parvaneh Daneshmand, Seyed Hosseinali Saberi, Kimia Kahrizi, Ariana Kariminejad, Hossein Najmabad. Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population. Scientific reports. vol 14. issue 1. 2024-12-02. PMID:39622884. |
copy number variations in the smn1 gene on chromosome 5 are the primary cause of spinal muscular atrophy (sma) disease, characterized by muscle weakness and degeneration due to impaired alpha motor neurons in the spinal cord. |
2024-12-02 |
2024-12-06 |
Not clear |
| b' Maru\\xc5\\xa1a Barbo, Damjan Glava\\xc4\\x8d, Gregor Jezernik, Metka Ravnik-Glava\\xc4\\x8. MicroRNAs as Biomarkers in Spinal Muscular Atrophy. Biomedicines. vol 12. issue 11. 2024-11-27. PMID:39594995.' |
spinal muscular atrophy (sma) is a severe neurodegenerative disease caused by the loss of the survival motor neuron (smn) protein, leading to degeneration of anterior motor neurons and resulting in progressive muscle weakness and atrophy. |
2024-11-27 |
2024-11-29 |
Not clear |
| Soumyadutta Basak, Nupur Biswas, Jaya Gill, Shashaanka Ashil. Spinal Muscular Atrophy: Current Medications and Re-purposed Drugs. Cellular and molecular neurobiology. vol 44. issue 1. 2024-11-08. PMID:39514016. |
spinal muscular atrophy (sma) is an autosomal recessive genetic neuromuscular disorder that is characterized by gradual muscle weakness and atrophy due to the degeneration of alpha motor neurons that are present on the anterior horn of the spinal cord. |
2024-11-08 |
2024-11-16 |
Not clear |
| Hong Liu, Lucia Chehade, Marc-Olivier Deguise, Yves De Repentigny, Rashmi Kothar. SMN depletion impairs skeletal muscle formation and maturation in a mouse model of SMA. Human molecular genetics. 2024-11-06. PMID:39505369. |
spinal muscular atrophy (sma) is characterized by low levels of the ubiquitously expressed survival motor neuron (smn) protein, leading to progressive muscle weakness and atrophy. |
2024-11-06 |
2024-11-09 |
mouse |
| Kubra Muge Celik, Canan Ceylan Kose, Derya Kaya, Koray Tekin, Fatma Sila. Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey. Journal of community genetics. 2024-10-11. PMID:39392569. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by variants in the smn1 gene, leading to progressive muscle weakness. |
2024-10-11 |
2024-10-13 |
Not clear |
| Allison N McCrady, Chelsea D Masterson, Laura E Barnes, Rebecca J Scharf, Silvia S Blemke. Development of an ultrasound-based metric of muscle functional capacity for use in patients with neuromuscular disease. Muscle & nerve. 2024-09-30. PMID:39347560. |
spinal muscular atrophy (sma) and duchenne muscular dystrophy (dmd) are progressive neuromuscular disorders characterized by severe muscle weakness and functional decline (pillen et al., muscle nerve 2008; 37(6):679-693). |
2024-09-30 |
2024-10-02 |
Not clear |
| Vera Dobelmann, Andreas Roos, Andreas Hentschel, Adela Della Marina, Markus Leo, Linda-Isabell Schmitt, Lorenzo Maggi, Ulrike Schara-Schmidt, Tim Hagenacker, Tobias Ruck, Heike Kölbe. Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy. Journal of neurology. 2024-09-06. PMID:39240344. |
spinal muscular atrophy (sma) as the second most common neurodegenerative disorder in childhood is characterized by the deficiency of survival of motor neuron (smn) protein leading predominantly to degeneration of alpha motor neurons and consequently to progressive muscle weakness and atrophy. |
2024-09-06 |
2024-09-08 |
Not clear |
| Bo Chen, Yuanlin Gong, Tengteng Zho. The Impact of Nusinersen and Risdiplam on Motor Function for Spinal Muscular Atrophy Type 2 and 3: A Meta-Analysis. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP. vol 34. issue 8. 2024-08-08. PMID:39113515. |
spinal muscular atrophy (sma) is a prevalent paediatric neuromuscular disorder characterised by muscle weakness and atrophy resulting from degeneration of spinal cord anterior horn α motor neurons. |
2024-08-08 |
2024-08-10 |
human |
| Fumiyuki Hatanaka, Keiichiro Suzuki, Kensaku Shojima, Jingting Yu, Yuta Takahashi, Akihisa Sakamoto, Javier Prieto, Maxim Shokhirev, Estrella Nuñez Delicado, Concepcion Rodriguez Esteban, Juan Carlos Izpisua Belmont. Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing. Nature communications. vol 15. issue 1. 2024-07-25. PMID:39048567. |
defect in the smn1 gene causes spinal muscular atrophy (sma), which shows loss of motor neurons, muscle weakness and atrophy. |
2024-07-25 |
2024-07-28 |
mouse |
| Yuewei Chi, Yue Qiao, Ying M. Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-07-07. PMID:38972959. |
spinal muscular atrophy (sma) is a rare neuromuscular disease, which is characterized by the degeneration of motor neurons, leading to symmetrical muscle weakness and atrophy. description of two novel smn1 mutations (patient1: c.683t > a, p.leu228ter; patient2: c.347 t > c, p.ile116 thr). we reported two patients with smn1 mutations with the clinical features, and provided a literature review of the previously reported 22 cases. two sma patients showed progressive proximal lower limb weakness and milder clinical symptom. |
2024-07-07 |
2024-07-11 |
Not clear |
| Elena Abati, Eleonora Mauri, Martina Rimoldi, Barbara Madini, Francesca Patria, Giacomo Pietro Comi, Stefania Cort. Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments? Frontiers in neurology. vol 15. 2024-06-19. PMID:38895692. |
spinal muscular atrophy (sma) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy, resulting from the degeneration of motor neurons in the spinal cord. |
2024-06-19 |
2024-06-21 |
Not clear |
| T Nanda, S Nanda, A Manna, J Mukherjee, M Mandal, J Benito-Leó. Limb-girdle muscle weakness and muscle hypertrophy: Do not dismiss spinal muscular atrophy. Revue neurologique. 2024-06-18. PMID:38890053. |
limb-girdle muscle weakness and muscle hypertrophy: do not dismiss spinal muscular atrophy. |
2024-06-18 |
2024-06-21 |
Not clear |
| Felix Rivera Troia, Fernando Ocasio Vill. An Insightful Observation Leading to a Late Diagnosis of Spinal Muscular Atrophy: A Case Report. Cureus. vol 16. issue 5. 2024-06-08. PMID:38846202. |
spinal muscular atrophy (sma) is a rare autosomal recessive neuromuscular disorder characterized by the loss of motor neurons in the spinal cord that results in progressive muscle weakness and atrophy. |
2024-06-08 |
2024-06-10 |
Not clear |
| Prachi Sharma, Sham Lohiya, Keta Vagha, Jayant D Vagha, Himanshu Raj, Roshan Prasa. Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report. Cureus. vol 16. issue 2. 2024-03-11. PMID:38465139. |
spinal muscular atrophy (sma) indicates a set of inherited autosomal recessive genetic disorders, where, specifically, the anterior horn cell motor neurons in the brain and spinal cord are affected, leading to a severe form of hypotonia and muscle weakness. |
2024-03-11 |
2024-03-14 |
Not clear |
| Charles Kumi Hammond, Emmanuel Oppong, Emmanuel Ameyaw, Joslin Alexei Dogb. Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series. The Pan African medical journal. vol 46. 2024-01-29. PMID:38282771. |
spinal muscular atrophy (sma) is an autosomal recessive inherited motor neuron disease characterized by progressive muscle weakness due to degeneration and loss of the anterior horn cells in the spinal cord and the brain stem nuclei from foetal life through infancy and childhood. |
2024-01-29 |
2024-01-31 |
Not clear |
| Chunchu Deng, Hong Che. Brain-derived neurotrophic factor/tropomyosin receptor kinase B signaling in spinal muscular atrophy and amyotrophic lateral sclerosis. Neurobiology of disease. 2023-12-13. PMID:38092270. |
changes in bdnf levels and full-length trkb (trkb-fl) signaling have been revealed in spinal muscular atrophy (sma) and amyotrophic lateral sclerosis (als), two common forms of motor neuron diseases that are characterized by defective neuromuscular junctions in early disease stages and subsequently progressive muscle weakness. |
2023-12-13 |
2023-12-17 |
Not clear |
| Faruq Ahmed, Asma Islam, Suria Akter, Md Abdullah Al Zubayer, Md Nasim Mahmud, Hosneara Yeasmin, Zannatul Maw. Multidisciplinary physical rehabilitation program of individuals with spinal muscular atrophy in an inclusive school setting. Journal of pediatric rehabilitation medicine. 2023-11-26. PMID:38007681. |
spinal muscular atrophy (sma) is a neuromuscular ailment that leads to the deprivation of motor neurons in the spinal cord, producing denervation and muscle weakness. |
2023-11-26 |
2023-11-28 |
Not clear |
| George Khludenev, Elise Le Cam, Bujji B Ainapurap. Non-diabetic Euglycemic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II. Cureus. vol 15. issue 9. 2023-10-24. PMID:37868546. |
spinal muscular atrophy (sma) is a rare neuromuscular disease that develops as a result of the degeneration of the anterior horn cells in the spinal cord and lower brainstem motor nuclei, resulting in progressive muscle weakness and atrophy. |
2023-10-24 |
2023-11-08 |
Not clear |
| Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczy. Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience. Orphanet journal of rare diseases. vol 18. issue 1. 2023-08-04. PMID:37542300. |
spinal muscular atrophy (sma) is an autosomal recessive disorder caused by a biallelic mutation in the smn1 gene, resulting in progressive muscle weakness and atrophy. |
2023-08-04 |
2023-08-14 |
Not clear |
| Julian Theuriet, Gorka Fernandez-Eulate, Philippe Latour, Tanya Stojkovic, Marion Masingue, Léo Vidoni, Emilien Bernard, Arnaud Jacquier, Laurent Schaeffer, Emmanuelle Salort-Campana, Jean-Baptiste Chanson, Aleksandra Nadaj Pakleza, Anne-Laure Kaminsky, Juliette Svahn, Véronique Manel, Françoise Bouhour, Antoine Pega. Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing. European journal of human genetics : EJHG. 2023-06-19. PMID:37337091. |
proximal spinal muscular atrophy (sma) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the proximal lower limbs. |
2023-06-19 |
2023-08-14 |
Not clear |