| Nome |
# |
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Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls, file de3e52b0-641a-762d-e053-3705fe0a30e0
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243
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Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects, file de3e52b3-bb8e-762d-e053-3705fe0a30e0
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75
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Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area, file de3e52b0-639c-762d-e053-3705fe0a30e0
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74
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Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients, file de3e52b1-f03b-762d-e053-3705fe0a30e0
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45
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Syndromic parkinsonism and dementia associated with OPA1 missense mutations, file de3e52b0-54e1-762d-e053-3705fe0a30e0
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36
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Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study, file de3e52b2-b122-762d-e053-3705fe0a30e0
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28
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The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence, file de3e52b1-f192-762d-e053-3705fe0a30e0
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22
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A genetic modifier of symptom onset in Pompe disease, file de3e52b4-0087-762d-e053-3705fe0a30e0
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22
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MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients, file de3e52b2-b826-762d-e053-3705fe0a30e0
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21
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Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports, file de3e52b2-ed36-762d-e053-3705fe0a30e0
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21
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Muscle MRI in neutral lipid storage disease (NLSD), file de3e52b4-051e-762d-e053-3705fe0a30e0
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21
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Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge, file de3e52b1-f194-762d-e053-3705fe0a30e0
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20
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Vacuolated PAS-positive lymphocytes on blood smear: An easy screening tool and a possible biomarker for monitoring therapeutic responses in Late Onset Pompe Disease (LOPD), file de3e52b1-a880-762d-e053-3705fe0a30e0
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19
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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry, file de3e52b3-d7bf-762d-e053-3705fe0a30e0
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17
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The Italian neuromuscular registry: A coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage, file de3e52b1-a8c9-762d-e053-3705fe0a30e0
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16
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Copy number variants account for a tiny fraction of undiagnosed myopathic patients, file de3e52b1-cafa-762d-e053-3705fe0a30e0
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16
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Atypical posterior reversible encephalopathy syndrome with hemispheric brainstem and spinal cord involvement in a patient with acute kidney injury – a case report., file 807c5899-1bf1-4b2a-99ca-22c6046f838b
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15
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Diagnostic tools in late onset Pompe disease (LOPD), file de3e52b2-23c1-762d-e053-3705fe0a30e0
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15
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Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study, file de3e52b3-da80-762d-e053-3705fe0a30e0
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15
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Evaluation of the psychometric properties of the EORTC chemotherapy-induced peripheral neuropathy questionnaire (QLQ-CIPN20), file de3e52b3-5ea7-762d-e053-3705fe0a30e0
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14
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Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: A pilot study, file de3e52b0-64f4-762d-e053-3705fe0a30e0
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13
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The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients, file de3e52b0-4dc3-762d-e053-3705fe0a30e0
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12
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Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment, file de3e52b0-51fa-762d-e053-3705fe0a30e0
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11
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Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment, file de3e52b0-c638-762d-e053-3705fe0a30e0
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11
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Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone, file de3e52b1-f03d-762d-e053-3705fe0a30e0
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11
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Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy, file de3e52b2-2a1c-762d-e053-3705fe0a30e0
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11
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Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response?, file de3e52b0-5e9f-762d-e053-3705fe0a30e0
|
9
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Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD), file de3e52b1-a88b-762d-e053-3705fe0a30e0
|
9
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Rasch-Transformed Total Neuropathy Score clinical version (RT-TNSc©) in patients with chemotherapy-induced peripheral neuropathy, file de3e52b2-8dd8-762d-e053-3705fe0a30e0
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9
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Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-a933-762d-e053-3705fe0a30e0
|
9
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Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: neurological and cardiological features, file de3e52b3-8b3c-762d-e053-3705fe0a30e0
|
9
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A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy, file de3e52b3-980e-762d-e053-3705fe0a30e0
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9
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Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association, file de3e52ae-a5c8-762d-e053-3705fe0a30e0
|
8
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LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population, file de3e52af-f46e-762d-e053-3705fe0a30e0
|
8
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Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family, file de3e52af-778d-762d-e053-3705fe0a30e0
|
7
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|
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature, file de3e52b0-5bd5-762d-e053-3705fe0a30e0
|
7
|
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Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center, file de3e52b2-ef82-762d-e053-3705fe0a30e0
|
7
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Evaluation of the psychometric properties of the EORTC chemotherapy-induced peripheral neuropathy questionnaire (QLQ-CIPN20), file de3e52b3-a737-762d-e053-3705fe0a30e0
|
7
|
|
Spectrum of movement disorders in mitochondrial diseases, file de3e52b3-bde7-762d-e053-3705fe0a30e0
|
7
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ANT1 is reduced in sporadic inclusion body myositis., file de3e52af-be7b-762d-e053-3705fe0a30e0
|
6
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Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment, file de3e52b0-5e1b-762d-e053-3705fe0a30e0
|
6
|
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Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review, file de3e52b0-5fff-762d-e053-3705fe0a30e0
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6
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Revisiting mitochondrial ocular myopathies: a study from the Italian Network, file de3e52b1-41e3-762d-e053-3705fe0a30e0
|
6
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Multisystem late onset Pompe disease (LOPD): an update on clinical aspects, file de3e52b2-190d-762d-e053-3705fe0a30e0
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6
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Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-9c58-762d-e053-3705fe0a30e0
|
6
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|
Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease, file de3e52b3-601a-762d-e053-3705fe0a30e0
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6
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ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis, file de3e52b4-2bec-762d-e053-3705fe0a30e0
|
6
|
|
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD), file de3e52af-f390-762d-e053-3705fe0a30e0
|
5
|
|
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum, file de3e52b0-5555-762d-e053-3705fe0a30e0
|
5
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|
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis, file de3e52b1-bf98-762d-e053-3705fe0a30e0
|
5
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|
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-bd00-762d-e053-3705fe0a30e0
|
5
|
|
Contactin 1, a Potential New Antigen Target in Membranous Nephropathy: A Case Report, file de3e52b5-605f-762d-e053-3705fe0a30e0
|
5
|
|
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial, file b7362efe-70bf-4244-8450-c0b39ef50389
|
4
|
|
Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies, file de3e52ae-b142-762d-e053-3705fe0a30e0
|
4
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Specific matrix metalloproteinase expression in focal myositis: an immunopathological study, file de3e52ae-b70b-762d-e053-3705fe0a30e0
|
4
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|
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3, file de3e52b0-42ae-762d-e053-3705fe0a30e0
|
4
|
|
null, file de3e52b0-56be-762d-e053-3705fe0a30e0
|
4
|
|
microRNAs as biomarkers in Pompe disease, file de3e52b3-547e-762d-e053-3705fe0a30e0
|
4
|
|
MuSK-Associated Myasthenia Gravis: Clinical Features and Management, file de3e52b3-6b19-762d-e053-3705fe0a30e0
|
4
|
|
Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance, file de3e52b3-bdd6-762d-e053-3705fe0a30e0
|
4
|
|
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment, file de3e52b4-8ee1-762d-e053-3705fe0a30e0
|
4
|
|
Long-term treatment with subcutaneous immunoglobulin in multifocal motor neuropathy, file de3e52b4-d326-762d-e053-3705fe0a30e0
|
4
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Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy, file de3e52b4-f5c5-762d-e053-3705fe0a30e0
|
4
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Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area, file de3e52b4-f7e0-762d-e053-3705fe0a30e0
|
4
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Management of Teenage Stroke in the Acute Setting: Two Case Reports, file de3e52b5-31db-762d-e053-3705fe0a30e0
|
4
|
|
Statins Neuromuscular Adverse Effects, file f1b6886a-c098-445e-811d-c54e10a8d43d
|
4
|
|
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects, file 9d694645-b1bc-41cf-a15b-5fe6a0cdf0c4
|
3
|
|
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients., file de3e52ae-acd6-762d-e053-3705fe0a30e0
|
3
|
|
The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings, file de3e52ae-e5fd-762d-e053-3705fe0a30e0
|
3
|
|
Congenital myopathies: Clinical phenotypes and new diagnostic tools, file de3e52b1-4eae-762d-e053-3705fe0a30e0
|
3
|
|
Dolori muscolari, deficit di forza e/o disturbi sensitivi, file de3e52b2-9c56-762d-e053-3705fe0a30e0
|
3
|
|
null, file de3e52b2-ef86-762d-e053-3705fe0a30e0
|
3
|
|
Muscle Pain, Weakness and/or Sensory Disorder, file de3e52b3-8a6d-762d-e053-3705fe0a30e0
|
3
|
|
Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants, file de3e52b3-d516-762d-e053-3705fe0a30e0
|
3
|
|
Atypical CIDP: Diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database, file de3e52b4-286c-762d-e053-3705fe0a30e0
|
3
|
|
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis, file de3e52b4-b304-762d-e053-3705fe0a30e0
|
3
|
|
Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy, file 754aec5f-262f-4494-9e70-9a82bff7c4ac
|
2
|
|
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial, file 79aa81b0-b486-4340-acc8-9a24417a9672
|
2
|
|
Chronic migraine in the first COVID‐19 lockdown: the impact of sleep, remote working, and other life/psychological changes, file be8147f1-6c80-4d14-b50b-8370f0be4c7c
|
2
|
|
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL., file de3e52ae-ba8a-762d-e053-3705fe0a30e0
|
2
|
|
Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases, file de3e52ae-cb4b-762d-e053-3705fe0a30e0
|
2
|
|
Phenotypic clustering of lamin A/C mutations in neuromuscular patients., file de3e52ae-d09a-762d-e053-3705fe0a30e0
|
2
|
|
null, file de3e52ae-df34-762d-e053-3705fe0a30e0
|
2
|
|
Therapeutic approaches in the late onset form of GSD II, file de3e52ae-e87f-762d-e053-3705fe0a30e0
|
2
|
|
null, file de3e52ae-eb85-762d-e053-3705fe0a30e0
|
2
|
|
Analysis of lipid profile in lipid storage myopathy, file de3e52b0-18bb-762d-e053-3705fe0a30e0
|
2
|
|
Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease, file de3e52b0-54f3-762d-e053-3705fe0a30e0
|
2
|
|
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease, file de3e52b0-5641-762d-e053-3705fe0a30e0
|
2
|
|
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations, file de3e52b0-57ac-762d-e053-3705fe0a30e0
|
2
|
|
Juvenile limb-girdle myasthenia gravis, file de3e52b0-5fb1-762d-e053-3705fe0a30e0
|
2
|
|
Measuring quality of life impairment in skeletal muscle channelopathies, file de3e52b0-64f5-762d-e053-3705fe0a30e0
|
2
|
|
Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism, file de3e52b0-6548-762d-e053-3705fe0a30e0
|
2
|
|
MicroRNA signatures predict dysregulated Vitamin D receptor and calcium pathways status in Limb Girdle muscle dystrophies (LGMD) 2A/2B., file de3e52b0-69af-762d-e053-3705fe0a30e0
|
2
|
|
Facial onset sensory motor neuronopathy: not always a slowly progressive disorder., file de3e52b0-dfd6-762d-e053-3705fe0a30e0
|
2
|
|
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy., file de3e52b0-e460-762d-e053-3705fe0a30e0
|
2
|
|
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience, file de3e52b1-45cd-762d-e053-3705fe0a30e0
|
2
|
|
Muscle MRI in neutral lipid storage disease (NLSD), file de3e52b1-463f-762d-e053-3705fe0a30e0
|
2
|
|
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients, file de3e52b1-4b7f-762d-e053-3705fe0a30e0
|
2
|
|
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group, file de3e52b1-ec31-762d-e053-3705fe0a30e0
|
2
|
|
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study, file de3e52b2-28dd-762d-e053-3705fe0a30e0
|
2
|
| Totale |
1.136 |