Sfoglia per Autore
New perspectives in the diagnosis and management of enteric neuropathies
2013 Charles H. Knowles;Greger Lindberg;Emanuele Panza;Roberto De Giorgio
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
2016 Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
2018 Dugan, Sarah L.; Panza, Emanuele; Openshaw, Amanda; Botto, Lorenzo D.; Camacho, Jose A.; Toydemir, Reha M.
Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism
2019 Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9
2019 Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder
2020 Marco-Marín, Clara; Escamilla-Honrubia, Juan M; Llácer, José L; Seri, Marco; Panza, Emanuele; Rubio, Vicente
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
2020 Toydemir, Reha M.; Panza, Emanuele; Longhurst, Maria C.; South, Sarah T.; Rope, Alan F.
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone
2020 Avnet S.; Lemma S.; Errani C.; Falzetti L.; Panza E.; Columbaro M.; Nanni C.; Baldini N.
The clear cell sarcoma functional genomic landscape
2021 Panza E.; Ozenberger B.B.; Straessler K.M.; Barrott J.J.; Li L.; Wang Y.; Xie M.; Boulet A.; Titen S.W.A.; Mason C.C.; Lazar A.J.; Ding L.; Capecchi M.R.; Jones K.B.
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways
2022 Panza, Emanuele; Meyyazhagan, Arun; Orlacchio, Antonio
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms
2023 Martinello C.; Panza E.; Orlacchio A.
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
2023 Rossi C.; Ramadan S.; Evangelisti C.; Ferrari S.; Accadia M.; Toydemir R.M.; Panza E.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| New perspectives in the diagnosis and management of enteric neuropathies | Charles H. Knowles;Greger Lindberg;Emanuele Panza;Roberto De Giorgio | 2013-01-01 | NATURE REVIEWS. GASTROENTEROLOGY & HEPATOLOGY | - | 1.01 Articolo in rivista | - |
| ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism | Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Gi...useppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco | 2016-01-01 | BRAIN | - | 1.04 Replica / breve intervento (e simili) | - |
| Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions | Dugan, Sarah L.; Panza, Emanuele; Openshaw, Amanda; Botto, Lorenzo D.; Camacho, Jose A.; Toydemir..., Reha M. | 2018-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism | Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri | 2019-01-01 | FRONTIERS IN NEUROLOGY | - | 1.01 Articolo in rivista | FNEUR 2019.pdf |
| P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 | Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi...-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza | 2019-01-01 | ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | - | 1.01 Articolo in rivista | AnnClinTranNeurol_2019.pdf; acn350821-sup-0001-supinfo.pdf |
| Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder | Marco-Marín, Clara; Escamilla-Honrubia, Juan M; Llácer, José L; Seri, Marco; Panza, Emanuele; Rub...io, Vicente | 2020-01-01 | JOURNAL OF INHERITED METABOLIC DISEASE | - | 1.01 Articolo in rivista | - |
| Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism | Toydemir, Reha M.; Panza, Emanuele; Longhurst, Maria C.; South, Sarah T.; Rope, Alan F. | 2020-01-01 | MOLECULAR SYNDROMOLOGY | - | 1.01 Articolo in rivista | - |
| Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone | Avnet S.; Lemma S.; Errani C.; Falzetti L.; Panza E.; Columbaro M.; Nanni C.; Baldini N. | 2020-01-01 | BONE | - | 1.01 Articolo in rivista | - |
| The clear cell sarcoma functional genomic landscape | Panza E.; Ozenberger B.B.; Straessler K.M.; Barrott J.J.; Li L.; Wang Y.; Xie M.; Boulet A.; Tite...n S.W.A.; Mason C.C.; Lazar A.J.; Ding L.; Capecchi M.R.; Jones K.B. | 2021-01-01 | THE JOURNAL OF CLINICAL INVESTIGATION | - | 1.01 Articolo in rivista | - |
| Hereditary spastic paraplegia: Genetic heterogeneity and common pathways | Panza, Emanuele; Meyyazhagan, Arun; Orlacchio, Antonio | 2022-01-01 | EXPERIMENTAL NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms | Martinello C.; Panza E.; Orlacchio A. | 2023-01-01 | EXPERT REVIEW OF PROTEOMICS | - | 1.01 Articolo in rivista | - |
| Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome | Rossi C.; Ramadan S.; Evangelisti C.; Ferrari S.; Accadia M.; Toydemir R.M.; Panza E. | 2023-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | Front Gen 2023.pdf; front.zip |
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