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Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.
- Published in:
- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05426-6
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- Publication type:
- Article
Genomic rearrangements at theIGHMBP2gene locus in two patients with SMARD1.
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- Human Genetics, 2004, v. 115, n. 4, p. 319, doi. 10.1007/s00439-004-1156-0
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- Publication type:
- Article
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 665, doi. 10.3233/JND-230211
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- Publication type:
- Article
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 567, doi. 10.3233/JND-221556
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- Publication type:
- Article
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 6, p. 1532, doi. 10.3390/cells9061532
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- Publication type:
- Article
A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum.
- Published in:
- 2023
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- Publication type:
- Case Study
Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 5, p. 1923, doi. 10.1007/s00431-021-04325-3
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- Publication type:
- Article
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys.
- Published in:
- PLoS Currents, 2014, p. 497, doi. 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6
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- Publication type:
- Article
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?
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- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191164
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- Publication type:
- Article
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience.
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- Acta Myologica, 2023, v. 42, n. 4, p. 118, doi. 10.36185/2532-1900-396
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- Publication type:
- Article
Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
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- Acta Myologica, 2022, v. 41, n. 4, p. 135, doi. 10.36185/2532-1900-081
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- Publication type:
- Article
Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam.
- Published in:
- Acta Myologica, 2022, v. 41, n. 3, p. 117
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- Publication type:
- Article
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
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- Acta Myologica, 2017, v. 36, n. 3, p. 125
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- Publication type:
- Article
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
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- Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9
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- Publication type:
- Article
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations.
- Published in:
- Neurogenetics, 2009, v. 10, n. 3, p. 229, doi. 10.1007/s10048-009-0175-3
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- Publication type:
- Article
Acute quadriplegic myopathy in a 16-month-old child.
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- Pediatric Anesthesia, 2005, v. 15, n. 7, p. 611, doi. 10.1111/j.1460-9592.2005.01491.x
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- Publication type:
- Article
Spring phenology is affected by fall non-structural carbohydrate concentration and winter sugar redistribution in three Mediterranean nut tree species.
- Published in:
- Tree Physiology, 2021, v. 41, n. 8, p. 1425, doi. 10.1093/treephys/tpab014
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- Publication type:
- Article
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
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- Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 10, p. 332, doi. 10.3390/jcdd9100332
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- Publication type:
- Article
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0271681
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- Publication type:
- Article
Congenital myopathies.
- Published in:
- Current Neurology & Neuroscience Reports, 2008, v. 8, n. 1, p. 73, doi. 10.1007/s11910-008-0012-3
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- Publication type:
- Article
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
- Published in:
- 2021
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- Publication type:
- journal article
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788
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- Publication type:
- Article
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
- Published in:
- 2019
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- Publication type:
- journal article
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810274
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- Publication type:
- Article
Nusinersen efficacy data for 24‐month in type 2 and 3 spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 404, doi. 10.1002/acn3.51514
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- Publication type:
- Article
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 8, p. 1622, doi. 10.1002/acn3.51411
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- Publication type:
- Article
Type I SMA "new natural history": long‐term data in nusinersen‐treated patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 548, doi. 10.1002/acn3.51276
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- Publication type:
- Article
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 786, doi. 10.1002/acn3.51046
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- Publication type:
- Article
Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00300
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- Publication type:
- Article
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
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- Genes, 2024, v. 15, n. 4, p. 508, doi. 10.3390/genes15040508
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- Publication type:
- Article
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
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- Publication type:
- Article
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 52, doi. 10.1038/ejhg.2009.116
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- Publication type:
- Article
Spring bud growth depends on sugar delivery by xylem and water recirculation by phloem Münch flow in Juglans regia.
- Published in:
- Planta: An International Journal of Plant Biology, 2017, v. 246, n. 3, p. 495, doi. 10.1007/s00425-017-2707-7
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- Publication type:
- Article
Exon 45 Skipping Through U1-snRNA Antisense Molecules Recovers the Dys-nNOS Pathway and Muscle Differentiation in Human DMD Myoblasts.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 11, p. 2134, doi. 10.1038/mt.2012.178
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- Publication type:
- Article
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.565868
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- Publication type:
- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
- Published in:
- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
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- Publication type:
- Article
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 9, p. 4884, doi. 10.1007/s00415-022-11133-8
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- Publication type:
- Article
Muscle MRI in neutral lipid storage disease (NLSD).
- Published in:
- Journal of Neurology, 2017, v. 264, n. 7, p. 1334, doi. 10.1007/s00415-017-8498-8
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- Publication type:
- Article
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).
- Published in:
- 2017
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- Publication type:
- Erratum
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 5, p. 870, doi. 10.1007/s00415-014-7287-x
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- Publication type:
- Article
'I have got something positive out of this situation': psychological benefits of caregiving in relatives of young people with muscular dystrophy.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 1, p. 188, doi. 10.1007/s00415-013-7176-8
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- Publication type:
- Article
Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
- Published in:
- 2019
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- Publication type:
- journal article
WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 1972, doi. 10.1002/acn3.51884
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- Publication type:
- Article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
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- Publication type:
- Article
Comparison of phenological traits, growth patterns, and seasonal dynamics of non-structural carbohydrate in Mediterranean tree crop species.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-019-57016-3
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- Publication type:
- Article
miRNAs as serum biomarkers for Duchenne muscular dystrophy.
- Published in:
- EMBO Molecular Medicine, 2011, v. 3, n. 5, p. 258, doi. 10.1002/emmm.201100133
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- Publication type:
- Article
Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108205
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- Publication type:
- Article
6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0083400
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- Publication type:
- Article
24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0052512
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- Publication type:
- Article
Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 233, doi. 10.3390/brainsci11020233
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- Publication type:
- Article