1. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adult phenotype of KCNQ2 encephalopathy. Issue 6 (2nd April 2021) Authors: Boets, Stephanie; Johannesen, Katrine M; Destree, Anne; Manti, Filippo; Ramantani, Georgia; Lesca, Gaetan; Vercueil, Laurent; Koenig, Mary Kay; Striano, Pasquale; Møller, Rikke Steensbjerre; Cooper, Edward; Weckhuysen, Sarah Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 528 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. Issue 4 (28th January 2021) Authors: Kuseyri Hübschmann, Oya; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella; Cortès‐Saladelafont, Elisenda; Mercimek‐Andrews, Saadet; Yildiz, Yilmaz; Pons, Roser; Kulhánek, Jan; Oppebøen, Mari; Koht, Jeanette Aimee; Podzamczer‐Valls, Inés; Domingo‐Jimenez, Rosario; Ibáñez, Sa... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 1070 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood. (5th October 2020) Authors: Mastrangelo, Mario; Manti, Filippo; Giannini, Maria Teresa; Guerrini, Renzo; Leuzzi, Vincenzo Journal: Neurology Issue: Volume 6:Number 5(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency. (October 2022) Authors: Manti, Filippo; Mastrangelo, Mario; Battini, Roberta; Carducci, Claudia; Spagnoli, Carlotta; Fusco, Carlo; Tolve, Manuela; Carducci, Carla; Leuzzi, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 103(2022) Page Start: 105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neurodevelopmental Disorder and Late‐Onset Degenerative Parkinsonism in a Patient with a WDR45 Defect. Issue 1 (10th November 2021) Authors: Manti, Filippo; Panteghini, Celeste; Garavaglia, Barbara; Leuzzi, Vincenzo Journal: Movement disorders clinical practice Issue: Volume 9:Issue 1(2022) Page Start: 110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism. (April 2019) Authors: Manti, Filippo; Nardecchia, Francesca; Barresi, Sabina; Venditti, Martina; Pizzi, Simone; Hamdan, Fadi F.; Blau, Nenad; Burlina, Alberto; Tartaglia, Marco; Leuzzi, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 61(2019) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Predictability and inconsistencies in the cognitive outcome of early treated PKU patients. Issue 6 (23rd August 2017) Authors: Manti, Filippo; Nardecchia, Francesca; Paci, Sabrina; Chiarotti, Flavia; Carducci, Claudia; Carducci, Carla; Dalmazzone, Silvia; Cefalo, Graziella; Salvatici, Elisabetta; Banderali, Giuseppe; Leuzzi, Vincenzo Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 6(2017) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6. Issue 2 (22nd October 2013) Authors: Leuzzi, Vincenzo; Garavaglia, Barbara; Manti, Filippo; Bertino, Sara; Nardocci, Nardo Journal: Movement disorders Issue: Volume 29:Issue 2(2014) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗