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Qualità e ricerca: è riconfermata la certificazione ISO 9001 per il processo di validazione delle pubblicazioni in IRIS-BOA

La norma ISO 9001 definisce i requisiti che il Sistema di Gestione per la Qualità di un'organizzazione deve dimostrare di soddisfare per garantire un livello adeguato di qualità del proprio prodotto/servizio: il 19 novembre 2025, dopo un costante lavoro di monitoraggio sul processo, SIR ha superato l'audit di sorveglianza annuale per il mantenimento della certificazione di qualità.
Il certificato ufficiale ISO è disponibile a questo link.

Prodotti recenti

Correction to: “When should primary angiitis of the central nervous system (PACNS) be suspected?”: literature review and proposal of a preliminary screening algorithm (Neurological Sciences, (2020), 41, 11, (3135-3148), 10.1007/s10072-020-04583-3)

The above article was published online with inverted given and family names. The correct presentation has been corrected above. The original article has been corrected.

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testing has expanded the spectrum of clinical phenotypes. In particular, D4Z4 alleles with 9–10 repeat have been found in healthy individuals, in subject...

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

Background: Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations are responsible for an autosomal dominant (AD) progressive myopathy, characterized by the presence of rimmed vacuoles and by a reduction in the number and size of type 2A fibers, and a recessive early onset myopathy characterized by complete...

Short- and long-term motor outcome of STN-DBS in Parkinson’s Disease: focus on sex differences

Introduction: Subthalamic nucleus deep brain stimulation (STN-DBS) is an established treatment for patients with Parkinson’s disease (PD) with motor complications; the contribution of sex in determining the outcome is still not understood. Methods: We included 107 patients (71 males) with PD consecutively implanted with STN-DBS at our center. We reviewed patient charts from our database and retrospectively collected demographical and clinical data at baseline and at three follow-up visits (1,...

Validity of the wall goniometer as a screening tool to detect postural abnormalities in Parkinson's disease

Introduction: Software-based measurements of postural abnormalities in Parkinson's disease (PD) are the gold standard but may be time-consuming and not always feasible in clinical practice. Wall goniometer (WG) is an easier, quicker, and inexpensive instrument for screening patients with postural abnormalities, but no studies have investigated its validity so far. The aim of this study was to investigate the validity of the WG to measure postural abnormalities. Methods: A total of 283 consecu...

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Qualità e ricerca: è riconfermata la certificazione ISO 9001 per il processo di validazione delle pubblicazioni in IRIS-BOA

Prodotti recenti

Correction to: “When should primary angiitis of the central nervous system (PACNS) be suspected?”: literature review and proposal of a preliminary screening algorithm (Neurological Sciences, (2020), 41, 11, (3135-3148), 10.1007/s10072-020-04583-3)

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

Short- and long-term motor outcome of STN-DBS in Parkinson’s Disease: focus on sex differences

Validity of the wall goniometer as a screening tool to detect postural abnormalities in Parkinson's disease

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