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PubPharm (308)
1
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy : a cohort study
enthalten in:
Archives of disease in childhood
| 2024
von
Buchignani, B.
|
Cicala, G.
|
Cumbo, F.
| +21
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2
Unilateral deep brain stimulation (DBS) of nucleus ventralis intermedius thalami (Vim) for the treatment of post-traumatic tremor in children : a multicentre experience
enthalten in:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
| 2024
von
Peraio, S.
|
Mantovani, G.
|
Araceli, T.
| +15
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3
NOTCH1-Related Leukoencephalopathy : A Novel Variant and Literature Review
enthalten in:
International journal of molecular sciences
| 2024
von
Della Vecchia, S.
|
Tessa, A.
|
Pasquariello, R.
| +3
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4
Magnetic resonance fingerprinting-based myelin water fraction mapping for the assessment of white matter maturation and integrity in typical development and leukodystrophies
enthalten in:
NMR in biomedicine
| 2024
von
Lancione, M.
|
Cencini, M.
|
Scaffei, E.
| +10
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5
Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool : A Pilot Study
enthalten in:
Bioengineering (Basel, Switzerland)
| 2024
von
Menici, V.
|
Scalise, R.
|
Fasano, A.
| +6
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6
KLHL40-Related Myopathy : A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report
enthalten in:
Genes
| 2024
von
Buchignani, B.
|
Marinella, G.
|
Pasquariello, R.
| +6
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7
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children
enthalten in:
Clinical neurophysiology practice
| 2024
von
Simonelli, V.
|
Ferrari, A.
|
Battini, R.
| +2
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8
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients : A 24-month study
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
Coratti, G.
|
Pane, M.
|
Brogna, C.
| +42
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9
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness : A Two-Years Follow up Study
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Ricci, G.
|
Govoni, A.
|
Torri, F.
| +9
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10
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
enthalten in:
American journal of human genetics
| 2024
von
Salpietro, V.
|
Maroofian, R.
|
Zaki, M.
| +164
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Acta myologica : myopathies and cardiomyopathie...
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11
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glycine amidinotransferase
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TE7660XO1C
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