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Author/Creator Mastrangelo, Mario

1. A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3. (November 2019)

Authors:
Mastrangelo, Mario; Mei, Davide; Cesario, Serena; Fioriello, Francesca; Bernardini, Laura; Brinciotti, Mario; Guerrini, Renzo; Leuzzi, Vincenzo
Journal:
Parkinsonism & related disorders
Issue:
Volume 68(2019)
Page Start:
1
Record Type:
Journal Article
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2. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. Issue 5 (14th May 2020)

Authors:
Pearson, Toni S.; Gilbert, Laura; Opladen, Thomas; Garcia‐Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K. H.; Sykut‐Cegielska, Jolanta; Pons, Roser; Mercimek‐Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A.; Steel, Dora; Manti, Filippo; Meeks...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 5(2020)
Page Start:
1121
Record Type:
Journal Article
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3. Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study. (September 2017)

Authors:
Raucci, Umberto; Parisi, Pasquale; Vanacore, Nicola; La Penna, Francesco; Ferro, Valentina; Calistri, Lucia; Bondone, Claudia; Midulla, Fabio; Suppiej, Agnese; Falsaperla, Raffaele; Cordelli, Duccio Maria; Palmieri, Antonella; Verrotti, Alberto; Becciani, Sabrina; Aguzzi, Sonia; Mastrangelo, Mari...
Journal:
European journal of paediatric neurology
Issue:
Volume 21:Number 5(2017:Sep.)
Page Start:
722
Record Type:
Journal Article
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5. Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. Issue 6 (2nd August 2021)

Authors:
Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet‐Na; Zafeiriou, Dimitrios I.; López‐Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano‐Lomelin, J...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 6(2021)
Page Start:
1489
Record Type:
Journal Article
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6. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Issue 1 (December 2017)

Authors:
Wassenberg, Tessa; Molero-Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg; Assmann, Birgit; Blau, Nenad; Garcia-Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip; Lee, Wang; Kurian, Manju; Heales, Simon; Flint, Lisa; Verbeek, Marcel;...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 12:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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9. Epilepsy in KCNH1‐related syndromes. Issue 2 (June 2016)

Authors:
Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D.V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo
Journal:
Epileptic disorders
Issue:
Volume 18:Issue 2(2016:Jun.)
Page Start:
123
Record Type:
Journal Article
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10. Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy. Issue 2 (29th October 2021)

Authors:
De Maria, Beatrice; Balestrini, Simona; Mei, Davide; Melani, Federico; Pellacani, Simona; Pisano, Tiziana; Rosati, Anna; Scaturro, Giusi M.; Giordano, Lucio; Cantalupo, Gaetano; Fontana, Elena; Zammarchi, Cristina; Said, Edith; Leuzzi, Vincenzo; Mastrangelo, Mario; Galosi, Serena; Parrini, Elena;...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 2(2022)
Page Start:
522
Record Type:
Journal Article
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