Evidence map›Paper›PMID 42163975›Full record

ArticleEClinicalMedicine2026

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single

Gianpaolo Cicala, Anna Capasso, Marianna Villa, Giorgia Coratti, Chiara Arpaia, Caterina Agosto, Stefania Corti, Federica Ricci, Claudio Bruno, Susan Matesanz and 21 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in EClinicalMedicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

31 authors.

Gianpaolo CicalaPaediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Anna CapassoPaediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Marianna VillaCentro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy.
Giorgia CorattiPaediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Chiara ArpaiaPaediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Caterina AgostoDipartimento Di Salute Della Donna E del Bambino, Università Di Padova, Padua, Italy.
Stefania CortiSSD Neuromuscular and Rare Diseases, Department of Neurosciences and Mental Health, Fondazione IRCCS ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Federica RicciNeuromuscular Center, AOU Città Della Salute E Della Scienza, University of Turin, Turin, Italy.
Claudio BrunoCentre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Susan MatesanzClinical In Vivo Gene Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Brianna GrossDepartment of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Daniel Guillen MendozaDepartment of Neurology, Le Bonheur Children's Hospital, Memphis, TN, USA.
Nancy KuntzAnn & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Janbernd KirschnerDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.
Andreas ZieglerDepartment of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Heidelberg University, Heidelberg 69120, Germany.
Laurent ServaisMDUK (Muscular Dystrophy UK) Oxford Neuromuscular Centre and NIHR (National Institute for Health and Care Research) Oxford Biomedical Research Centre, University of Oxford, Oxford, United Kingdom.
Fay-Linn AsselmanDepartment of Neurology, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.
Ludo van der PolDepartment of Neurology, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.
Claudia CastiglioniDepartment of Pediatric Neurology, Clinica Las Condes, Santiago, Chile.
Andres NascimientoNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
Eduardo Fidel TizzanoApplied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Rodrigo Holanda MendonçaDepartment of Neurology, Hospital Das Clinicas, University of São Paulo, São Paulo, Brazil.
Edmar ZanoteliDepartment of Neurology, Hospital Das Clinicas, University of São Paulo, São Paulo, Brazil.
Pinki MunotDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
Mariacristina ScotoDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
Richard FinkelSt. Jude Children's Research Hospital, Memphis, TN, USA.
Marika PanePaediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Francesco Danilo TizianoSection of Genomic Medicines, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
Eugenio MercuriPaediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
ITASMAc group
International SMA group

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Spinal Muscular Atrophy (SMA) is a phenotypically heterogenous disease. The Survival Motor Neuron 2 ( Methods: We conducted a retrospective observational study of individuals with genetically confirmed SMA (biallelic Survival Motor Neuron 1 [ Findings: Sixty-five individuals with one Interpretation: Our findings confirm that type 0 is the most frequent phenotype associated with one Funding: Some of the data in this study originate from disease registries at least partially funded by Biogen, Novartis and Roche.

Indexed as

One SMN2 copyPrenatal SMASpinal muscular atrophyType 0 SMA

Identifiers

PMID42163975
PMCPMC13186066

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.