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PubPharm (27)
1
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder
enthalten in:
Neurology. Genetics
| 2023
von
Pietra, A.
|
Palombo, F.
|
Giannotta, M.
| +8
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2
Onasemnogene abeparvovec in spinal muscular atrophy : predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
enthalten in:
EClinicalMedicine
| 2023
von
Pane, M.
|
Berti, B.
|
Capasso, A.
| +57
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3
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores : an Italian population study
enthalten in:
Acta neuropathologica communications
| 2022
von
Fusto, A.
|
Cassandrini, D.
|
Fiorillo, C.
| +31
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4
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
enthalten in:
Acta Neuropathologica Communications
| 2022
von
Fusto, A.
|
Cassandrini, D.
|
Fiorillo, C.
| +31
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5
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
enthalten in:
Acta Neuropathologica Communications
| 2022
von
Fusto, A.
|
Cassandrini, D.
|
Fiorillo, C.
| +31
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6
Telemedicine applied to neuromuscular disorders : focus on the COVID-19 pandemic era
enthalten in:
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
| 2022
von
Giannotta, M.
|
Petrelli, C.
|
Pini, A.
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7
BAG3-related myofibrillar myopathy : a further observation with cardiomyopathy at onset in pediatric age
enthalten in:
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
| 2021
von
Scarpini, G.
|
Valentino, M.
|
Giannotta, M.
| +5
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8
White matter and cerebellar involvement in alternating hemiplegia of childhood
enthalten in:
Journal of neurology
| 2020
von
Severino, M.
|
Pisciotta, L.
|
Tortora, D.
| +27
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9
Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis
enthalten in:
Developmental medicine and child neurology
| 2019
von
Nosadini, M.
|
Granata, T.
|
Matricardi, S.
| +51
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10
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
enthalten in:
JAMA neurology
| 2018
von
Charif, M.
|
Nasca, A.
|
Thompson, K.
| +39
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Research Support, Non-U.S. Gov't
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ATP1A3 protein, human
4
EC 7.2.2.13
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Sodium-Potassium-Exchanging ATPase
3
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Central core disease
3
Genotype–phenotype correlations
3
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ATP1A3
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Adaptor Proteins, Signal Transducing
1
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1
Anticonvulsants
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Apoptosis Regulatory Proteins
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