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13 in total

Review 1. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Authors: Kyung-Jin Kim; Phillip L Pearl; Kimmo Jensen; O Carter Snead; Patrizia Malaspina; Cornelis Jakobs; K Michael Gibson
Journal: Antioxid Redox Signal Date: 2011-04-10 Impact factor: 8.401

2. Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

Authors: M Casarano; M G Alessandrì; G S Salomons; E Moretti; C Jakobs; K M Gibson; G Cioni; R Battini
Journal: JIMD Rep Date: 2011-09-06

3. Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.

Authors: Hugo Morales-Briceño; Florence C F Chang; Chong Wong; Amali Mallawaarachchi; Nigel Wolfe; Renata Pellegrino da Silva; Hakon Hakonarson; Sarah Annabella Sandaradura; Yiran Guo; John Christodoulou; Jim Lagopoulos; Padraic Grattan-Smith; Victor S C Fung
Journal: Neurology Date: 2019-01-08 Impact factor: 9.910

4. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.

Authors: Sara Leo; Concetta Capo; Bianca Maria Ciminelli; Federico Iacovelli; Giovanna Menduti; Silvia Funghini; Maria Alice Donati; Mattia Falconi; Luisa Rossi; Patrizia Malaspina
Journal: Metab Brain Dis Date: 2017-06-29 Impact factor: 3.584

Review 10. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

Authors: Patrizia Malaspina; Matthew J Picklo; C Jakobs; O Carter Snead; K Michael Gibson
Journal: Hum Genomics Date: 2009-01 Impact factor: 4.639

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.

Review 1. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

2. Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

3. Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.

4. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.

Review 5. Paroxysmal Movement Disorders: Recent Advances.

6. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

7. Novel mutations in two unrelated Italian patients with SSADH deficiency.

Review 8. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

Review 9. Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.

Review 10. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.