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1
A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts

von Bravo, Laura ; Simões, Joana FF ; Cardoso, Victor R ; et al.

In The Lancet Digital Health July 2024 6(7):e507-e519
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2
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network

von Rossi S ; Rubegni A ; Riso V ; et al.

Schlagworte: Hereditary spastic paraplegia; inherited rare neurologic disorder; degeneration of the corticospinal tract; Spastic paraplegia type 4; SPG4
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3
Acid Sphingomyelinase Controls Early Phases of Skeletal Muscle Regeneration by Shaping the Macrophage Phenotype

von Roux-Biejat P ; Coazzoli M ; Marrazzo P ; et al.

Schlagworte: acid sphingomyelinase; muscle regeneration; macrophage phenotype; inflammation
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4
Autophagy controls neonatal myogenesis by regulating the GH-IGF1 system through a NFE2L2- and DDIT3-mediated mechanism

von Zecchini S ; Giovarelli M ; Perrotta C ; et al.

Schlagworte: DDIT3; GHR; NFE2L2; development; dwarf mice; muscle; satellite cells; Settore BIO/14 - Farmacologia
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5
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

von Vantaggiato C ; Panzeri E ; Castelli M ; et al.

Schlagworte: AR-SPG11; AR-SPG15; RAB11; RAB5A; SPG11; ZFYVE26; autophagosome-endosome fusion; autophagy; endocytosis; Settore BIO/14 - Farmacologia
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6
Hereditary spastic paraplegia type 4 (SPG4): an international multicenter clinical and genetic study.

von ORLACCHIO Antonio ; Panza E ; Rumore R ; et al.
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7
Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients

von Panagiotakaki, E. ; De Grandis, E. ; Stagnaro M. ; et al.

Schlagworte: Alternating hemiplegia of childhood; ATP1A3; Genotype-phenotype
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8
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

von Klionsky, Dj ; Abdelmohsen, K ; Abe, A ; et al.

Schlagworte: LC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stre; vacuole
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9
The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report

von Querin G ; Bertolin C ; Martinuzzi A ; et al.
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10
Nitric oxide inhibition of Drp1-mediated mitochondrial fission is critical for myogenic differentiation.

von De Palma C ; Falcone S ; Pisoni S ; et al.
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11
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood - A study of 155 patients

von Panagiotakaki, E ; De Grandis, E ; Stagnaro, M ; et al.
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12
Cholestenoic acids regulate motor neuron survival via liver X receptors

von Theofilopoulos, S ; Griffiths, WJ ; Crick, PJ ; et al.

Journal of Clinical Investigation , 124 (11) pp. 4829-4842. (2014)
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13
First case of compound heterozygosity in ALS2 gene in infantile‐onset ascending spastic paralysis with bulbar involvement

von Sztriha, L ; Panzeri, C ; Kálmánchey, R ; et al.

Clinical Genetics ; volume 73, issue 6, page 591-593 ; ISSN 0009-9163 1399-0004
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14
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

von Coarelli, G ; Schule, R ; van de Warrenburg, BPC ; et al.

NEUROLOGY ; ISSN: 0028-3878 ; ISSN: 1526-632X

Schlagworte: Medicine and Health Sciences; M-AAA PROTEASE; MUTATIONS; GENE; DISEASE; SCALE
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15
FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

von Rattay, TW ; Lindig, T ; Baets, J ; et al.

BRAIN ; ISSN: 0006-8950 ; ISSN: 1460-2156

Schlagworte: Medicine and Health Sciences; SPG35; FAHN; FA2H; imaging biomarker; hereditary spastic paraplegia: HEREDITARY SPASTIC PARAPLEGIA; FATTY-ACID 2-HYDROXYLASE; IRON ACCUMULATION; COMPLICATED FORM; MUTATIONS; NEURODEGENERATION; PARAPARESIS; DISORDERS; DIAGNOSIS
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16
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

von Heinzen EL ; Swoboda KJ ; Hitomi Y ; et al.
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17
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY

von MUSUMECI, Olimpia ; TOSCANO, Antonio ; Mazzeo A. ; et al.
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18
Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients

von TRIMARCO A ; TORELLA A ; CUOMO A ; et al.
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19
Molecular and clinical characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP)

von MARTINUZZI A ; ROSSETTO MG ; CRIPPA F ; et al.
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20
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage

von Agosta F ; Scarlato M ; Spinelli EG ; et al.
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21
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

von Klionsky DJ ; Abdelmohsen K ; Abe A ; et al.
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22
Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca2+ dependent solute carrier protein family

von BASSI MT ; MANZONI, Marta ; BRESCIANI, Roberto ; et al.

Schlagworte: mitochondria; solute carrier; metabolite transport; EF-hand; calcium-binding
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23
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

von COSTA, CINZIA ; Prontera P ; SARCHIELLI, Paola ; et al.

Schlagworte: ATP1A2 gene; epilepsy; FHM2; GEFS+; migraine; Adult; Aged; Female; Genetic Predisposition to Disease; Hemiplegia; Human; Male; Middle Aged; Migraine Disorder; Mutation; Polymorphism; Single Nucleotide; Sodium-Potassium-Exchanging ATPase; Neurology (clinical)
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24
Cholestenoic acids regulate motor neuron survival via liver X receptors.

von Theofilopoulos S ; Griffiths WJ ; Crick PJ ; et al.
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25
White matter tract damage in pure and complicated hereditary spastic paraparesis

von Spinelli EG ; Agosta F ; Scarlato M ; et al.
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