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American Journal of Human Genetics
|
May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency
Alessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.
Brain : a Journal of Neurology
|
October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Dario Ronchi, Caterina Garone, Andreina Bordoni, et al.
Journal of Neurology
|
September 28, 2024
Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS
Delia Gagliardi, Mafalda Rizzuti, Pegah Masrori, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 1, 2021
Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy
Niko Hensel, Federica Cieri, Pamela Santonicola, et al.
Journal of the Neurological Sciences
|
March 4, 2026
Workshop report: Findings from the 2025 Italian SMAkers Educational Initiative on SMA management in Italy
Stefania Corti, Giulio Gadaleta, Ilaria Bitetti, et al.
Parkinsonism & Related Disorders
|
April 8, 2020
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy
Giacomo Bitetto, Maria Chiara Malaguti, Roberto Ceravolo, et al.
Neurobiology of Aging
|
July 6, 2013
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
Daniela Calini, Lucia Corrado, Roberto Del Bo, et al.
Journal of Cellular and Molecular Medicine
|
February 8, 2020
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients
Irene Faravelli, Megi Meneri, Domenica Saccomanno, et al.
Stem Cell Research
|
April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene
Ana Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.
Brain Communications
|
September 24, 2024
Investigating the prevalence of <i>MFN2</i> mutations in amyotrophic lateral sclerosis: insights from an Italian cohort
Elena Abati, Delia Gagliardi, Arianna Manini, et al.
Page
of 29
Search research articles
Search
Showing results (241-250 of 287) with videos related to
Sort By:
Page
of 29
American Journal of Human Genetics
|
May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency
Alessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.
Brain : a Journal of Neurology
|
October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Dario Ronchi, Caterina Garone, Andreina Bordoni, et al.
Journal of Neurology
|
September 28, 2024
Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS
Delia Gagliardi, Mafalda Rizzuti, Pegah Masrori, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 1, 2021
Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy
Niko Hensel, Federica Cieri, Pamela Santonicola, et al.
Journal of the Neurological Sciences
|
March 4, 2026
Workshop report: Findings from the 2025 Italian SMAkers Educational Initiative on SMA management in Italy
Stefania Corti, Giulio Gadaleta, Ilaria Bitetti, et al.
Parkinsonism & Related Disorders
|
April 8, 2020
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy
Giacomo Bitetto, Maria Chiara Malaguti, Roberto Ceravolo, et al.
Neurobiology of Aging
|
July 6, 2013
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
Daniela Calini, Lucia Corrado, Roberto Del Bo, et al.
Journal of Cellular and Molecular Medicine
|
February 8, 2020
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients
Irene Faravelli, Megi Meneri, Domenica Saccomanno, et al.
Stem Cell Research
|
April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene
Ana Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.
Brain Communications
|
September 24, 2024
Investigating the prevalence of <i>MFN2</i> mutations in amyotrophic lateral sclerosis: insights from an Italian cohort
Elena Abati, Delia Gagliardi, Arianna Manini, et al.
Page
of 29