Search Results - "Simard LR"

CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.

Authors: Singla, Amika Rogers, Carolyn Touma, Mary-Joe et al.

Source: BMC Medical Genomics. 5/30/2025, Vol. 18 Issue 1, p1-11. 11p.

Growth Hormone Strongly Induces hSMN2 Promoter Driving Construct Gene Expression in Mammalian Cells.

Authors: Yücedal, Dilara Arman, Ahmet

Source: Journal of Clinical Research in Pediatric Endocrinology. 2026, Vol. 18 Issue 1, p97-104. 8p.

RNA biomarkers in spinal muscular atrophy: enhancing pathogenesis understanding and guiding precision medicine.

Authors: Alberti C Berardinelli A Comi GP et al.

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2026 Mar 12; Vol. 83 (1). Date of Electronic Publication: 2026 Mar 12.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

Changes in the cortical GABAergic inhibitory system in a Spinal Muscular Atrophy mouse model.

Authors: Menduti G Ferrini F Caretto A et al.

Source: Cell death & disease [Cell Death Dis] 2026 Feb 28; Vol. 17 (1). Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran.

Authors: Shariati, Mohammad Davoudi, Alireza Boostani, Reza et al.

Source: Egyptian Journal of Medical Human Genetics. 7/31/2024, Vol. 25 Issue 1, p1-9. 9p.

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series.

Authors: Setyaningrum, Cempaka Thursina Srie Harahap, Indra Sari Kusuma Nurputra, Dian Kesumapramudya et al.

Source: Journal of Medical Case Reports. 11/15/2022, Vol. 16 Issue 1, p1-6. 6p.

Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen.

Authors: Garofalo, M. Bonanno, S. Marcuzzo, S. et al.

Source: Biology Direct. 9/13/2023, Vol. 18 Issue 1, p1-13. 13p.

Aggression in ADHD: relation to salivary cortisol.

Authors: El Ghamry, Reem H. Mohamed, Mona M. Azzam, Hanan M. et al.

Source: Middle East Current Psychiatry. 5/12/2021, Vol. 28 Issue 1, p1-8. 8p.

Characterization of the chromosome 7 locus associated with suicidal behavior.

Authors: Fiori LM Chawla A Nathan V et al.

Source: Molecular psychiatry [Mol Psychiatry] 2026 Apr 07. Date of Electronic Publication: 2026 Apr 07.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Network-Based Prioritization of Network-Peripheral Gene Modules in Autism Spectrum Disorder Using Integrative Transcriptomic and Proteomic Data.

Authors: Mohammedsaeed W Alharbi M

Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2026 Mar 04; Vol. 76 (1). Date of Electronic Publication: 2026 Mar 04.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

SMN1 dosage analysis in spinal muscular atrophy from India.

Authors: Kesari, Akanchha Rennert, Hanna Leonard, Debra GB et al.

Source: BMC Medical Genetics. 2005, Vol. 6, p1-6. 6p. 2 Diagrams, 1 Chart.

N471D WASH complex subunit strumpellin knock‐in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue.

Authors: Clemen, Christoph S. Schmidt, Andreas Winter, Lilli et al.

Source: Neuropathology & Applied Neurobiology. Feb2022, Vol. 48 Issue 1, p1-15. 15p.

Neurofilament as a potential biomarker for spinal muscular atrophy.

Authors: Darras, Basil T. Crawford, Thomas O. Finkel, Richard S. et al.

Source: Annals of Clinical & Translational Neurology. May2019, Vol. 6 Issue 5, p932-944. 13p.

Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.

Authors: Aasdev, Ashutosh Sreelekshmi, R S Iyer, V Rajesh et al.

Source: Journal of Biosciences. Mar2024, Vol. 49 Issue 1, p1-17. 17p.

GeneToCN: an alignment-free method for gene copy number estimation directly from next-generation sequencing reads.

Authors: Pajuste, Fanny-Dhelia Remm, Maido

Source: Scientific Reports. 11/20/2023, Vol. 13 Issue 1, p1-10. 10p.

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.

Authors: Sun, Yingjie Kong, Xiangdong Zhao, Zhenhua et al.

Source: BMC Medical Genetics. 6/18/2020, Vol. 21 Issue 1, p1-6. 6p.

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

Authors: Hsieh, Alexander Morton, Sarah U. Willcox, Jon A. L. et al.

Source: Genome Medicine. 4/29/2020, Vol. 12 Issue 1, p1-18. 18p.

NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

Authors: Wei Wen Dan Yin Fangfang Huang et al.

Source: BMC Medical Genetics. 2/3/2016, Vol. 17, p1-5. 5p.

Clinical Outcome of Adult Spinal Muscular Atrophy Patients Treated with Nusinersen: A Case Series Review.

Authors: Keng Lam Abel Wu

Source: Permanente Journal. Winter2021, Vol. 25 Issue 1, p161-163. 3p.

Homozygous deletion of exon 7 in SMN1 gene without phenotypic features of spinal muscular atrophy.

Authors: Ghanei, Mahmoud Sadat Fatemi, Seyedeh Helia Soudyab, Mohammad et al.

Source: Neurology Asia. 2022, Vol. 27 Issue 4, p955-962. 8p.