Found: 100
Select item for more details and to access through your institution.
Pediatric anti-HMGCR necrotizing myopathy: diagnostic challenges and literature review.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01354-3
- By:
- Publication type:
- Article
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10220-0
- By:
- Publication type:
- Article
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10220-0
- By:
- Publication type:
- Article
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00160
- By:
- Publication type:
- Article
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00859
- By:
- Publication type:
- Article
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 11, p. N.PAG, doi. 10.15252/emmm.201708799
- By:
- Publication type:
- Article
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0527-7
- By:
- Publication type:
- Article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0102-z
- By:
- Publication type:
- Article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-129
- By:
- Publication type:
- Article
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
- Published in:
- 2018
- By:
- Publication type:
- Letter
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
- By:
- Publication type:
- Article
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9817, doi. 10.3390/ijms23179817
- By:
- Publication type:
- Article
Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2850, doi. 10.3390/ijms22062850
- By:
- Publication type:
- Article
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2635, doi. 10.3390/ijms21072635
- By:
- Publication type:
- Article
Banking together. A unified model of informed consent for biobanking.
- Published in:
- EMBO Reports, 2008, v. 9, n. 4, p. 307, doi. 10.1038/embor.2008.41
- By:
- Publication type:
- Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
- By:
- Publication type:
- Article
Value of structured reporting in neuromuscular disorders.
- Published in:
- La Radiologia Medica, 2019, v. 124, n. 7, p. 628, doi. 10.1007/s11547-019-01012-0
- By:
- Publication type:
- Article
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 214, doi. 10.1038/ng.2501
- By:
- Publication type:
- Article
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 59, n. 3, p. 351, doi. 10.1007/s12031-016-0739-2
- By:
- Publication type:
- Article
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0316-5
- By:
- Publication type:
- Article
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.930039
- By:
- Publication type:
- Article
Mitochondrial Changes in Platelets Are Not Related to Those in Skeletal Muscle during Human Septic Shock.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096205
- By:
- Publication type:
- Article
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.
- Published in:
- Journal of Neuroscience Research, 2018, v. 96, n. 9, p. 1576, doi. 10.1002/jnr.24263
- By:
- Publication type:
- Article
Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?
- Published in:
- 2016
- By:
- Publication type:
- journal article
Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 6, p. 934, doi. 10.1002/mus.24545
- By:
- Publication type:
- Article
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 6, p. 831, doi. 10.1002/mus.23340
- By:
- Publication type:
- Article
Impaired expression of insulin-like growth factor-1 system in skeletal muscle of amyotrophic lateral sclerosis patients.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 2, p. 200, doi. 10.1002/mus.22288
- By:
- Publication type:
- Article
Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 1, p. 141, doi. 10.1002/mus.21842
- By:
- Publication type:
- Article
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
- Published in:
- Muscle & Nerve, 2003, v. 28, n. 1, p. 113, doi. 10.1002/mus.10391
- By:
- Publication type:
- Article
Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene.
- Published in:
- Muscle & Nerve, 2002, v. 26, n. 2, p. 265, doi. 10.1002/mus.10172
- By:
- Publication type:
- Article
Intra-aortic injection of myoblasts in mdx mice: genetic and technetium-99m cell labeling and biodistribution.
- Published in:
- 1997
- By:
- Publication type:
- journal article
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
- Published in:
- 2015
- By:
- Publication type:
- journal article
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 11, p. 1399, doi. 10.1007/s00415-006-0223-y
- By:
- Publication type:
- Article
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation: A morphological, genetic and spectroscopic study.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 12, p. 1498, doi. 10.1007/s00415-003-0246-6
- By:
- Publication type:
- Article
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 3, p. 305, doi. 10.1007/s004150200010
- By:
- Publication type:
- Article
Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Lafora Disease: A Case Report and Evolving Treatment Advancements.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 12, p. 1679, doi. 10.3390/brainsci13121679
- By:
- Publication type:
- Article
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1116, doi. 10.1038/ejhg.2014.272
- By:
- Publication type:
- Article
The novel mitochondrial tRNA<sup>Asn</sup> gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 357, doi. 10.1038/ejhg.2011.238
- By:
- Publication type:
- Article
Metformin overdose causes platelet mitochondrial dysfunction in humans.
- Published in:
- Critical Care, 2012, v. 16, n. 5, p. 11663, doi. 10.1186/cc11663
- By:
- Publication type:
- Article