|
| 37871066 | The Arrangement of Marks Impacts Afforded Messages: Ordering, Partitioning, Spacing, and Coloring in Bar Charts. | IEEE Trans Vis Comput Graph | 2024 |
| 37853291 | Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND). | Neurol Sci | 2024 |
| 38035872 | Invisible treatment with lingual appliance for the correction of an adult class II subdivision with asymmetrical Wilson and Spee curves: A case report. | Int Orthod | 2024 |
| 37935568 | Titin copy number variations associated with dominant inherited phenotypes. | J Med Genet | 2024 |
| 37739783 | Early treatment of type II SMA slows rate of progression of scoliosis. | J Neurol Neurosurg Psychiatry | 2024 |
| 37871066 | The Arrangement of Marks Impacts Afforded Messages: Ordering, Partitioning, Spacing, and Coloring in Bar Charts. | IEEE Trans Vis Comput Graph | 2024 |
| 37853291 | Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND). | Neurol Sci | 2024 |
| 37739783 | Early treatment of type II SMA slows rate of progression of scoliosis. | J Neurol Neurosurg Psychiatry | 2024 |
| 37935568 | Titin copy number variations associated with dominant inherited phenotypes. | J Med Genet | 2024 |
| 38035872 | Invisible treatment with lingual appliance for the correction of an adult class II subdivision with asymmetrical Wilson and Spee curves: A case report. | Int Orthod | 2024 |
| 33820410 | Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited. | Minerva Pediatr (Torino) | 2023 |
| 36166555 | Multiple Forecast Visualizations (MFVs): Trade-offs in Trust and Performance in Multiple COVID-19 Forecast Visualizations. | IEEE Trans Vis Comput Graph | 2023 |
| 36414255 | Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis. | J Med Genet | 2023 |
| 37592248 | Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates. | BMC Neurol | 2023 |
| 37651761 | Profile changes in extraction treatments of upper premolars: A case series. | Int Orthod | 2023 |
| 38002527 | A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>. | Brain Sci | 2023 |
| 37576110 | Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients. | Front Cardiovasc Med | 2023 |
| 37632133 | WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy. | Ann Clin Transl Neurol | 2023 |
| 37704504 | Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis. | Neuromuscul Disord | 2023 |
| 37409780 | Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. | Muscle Nerve | 2023 |
| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 36902710 | 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. | J Clin Med | 2023 |
| 36893678 | Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers. | Eur J Paediatr Neurol | 2023 |
| 36769099 | Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons. | Int J Mol Sci | 2023 |
| 37268435 | Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. | Neurology | 2023 |
| 36880698 | Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function. | Eur J Neurol | 2023 |
| 37322043 | Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. | Nat Commun | 2023 |
| 37257395 | Torque control with set-up and auxiliary spring in an adult severe class II case treated by lingual straight-wire appliance, premolar extractions and orthognathic surgery. | Int Orthod | 2023 |
| 37066919 | 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? | J Neuromuscul Dis | 2023 |
| 37441783 | Indirect rebonding transfer tray following magnetic resonance imaging. | J Clin Orthod | 2023 |
| 37435044 | Novel loss of function mutation in <i>TUBA1A</i> gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia. | Front Cell Neurosci | 2023 |
| 37301203 | Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. | Am J Hum Genet | 2023 |
| 36792810 | Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients. | Commun Med (Lond) | 2023 |
| 36610255 | Invisible treatment of an asymmetric adult class II malocclusion related to unilateral upper lateral incisor agenesis with a straight wire lingual appliance, mini-screw and premolar extraction: A case report. | Int Orthod | 2023 |
| 37296101 | Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. | Nat Commun | 2023 |
| 37231492 | Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment. | Arch Public Health | 2023 |
| 36603335 | Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants. | Clin Neurol Neurosurg | 2023 |
| 36788019 | Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. | J Med Genet | 2023 |
| 36669459 | Non-surgical occlusal plane cant resolution with lingual straight-wire appliance and miniscrews in a class II asymmetric adult patient. | Int Orthod | 2023 |
| 37480080 | Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience. | Orphanet J Rare Dis | 2023 |
| 33820410 | Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited. | Minerva Pediatr (Torino) | 2023 |
| 37632133 | WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy. | Ann Clin Transl Neurol | 2023 |
| 37592248 | Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates. | BMC Neurol | 2023 |
| 37704504 | Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis. | Neuromuscul Disord | 2023 |
| 37480080 | Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience. | Orphanet J Rare Dis | 2023 |
| 38002527 | A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>. | Brain Sci | 2023 |
| 37651761 | Profile changes in extraction treatments of upper premolars: A case series. | Int Orthod | 2023 |
| 37576110 | Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients. | Front Cardiovasc Med | 2023 |
| 37322043 | Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. | Nat Commun | 2023 |
| 37257395 | Torque control with set-up and auxiliary spring in an adult severe class II case treated by lingual straight-wire appliance, premolar extractions and orthognathic surgery. | Int Orthod | 2023 |