Search research articles
Contact Us
Filters
Showing results (61-70 of 84) with videos related to
Page
of 9
Sort By:
Stem Cell Research
|
January 13, 2023
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene
Giovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, et al.
Metabolic Brain Disease
|
November 28, 2017
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort
Raffaele Falsaperla, Maria Stella Vari, Irene Toldo, et al.
Seizure
|
August 5, 2025
Severe epilepsy phenotypes in adults with succinic semialdehyde dehydrogenase deficiency: Novel clinical and therapeutic insights from an Italian multicenter retrospective cohort study
Laura Canafoglia, Mario Mastrangelo, Marco Russo, et al.
Seizure
|
January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study
Mario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
JIMD Reports
|
May 3, 2014
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2021
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy
Beatrice De Maria, Simona Balestrini, Davide Mei, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
June 9, 2016
Epilepsy in KCNH1-related syndromes
Mario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, et al.
Molecular Genetics and Metabolism Reports
|
November 11, 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, et al.
Journal of Inherited Metabolic Disease
|
November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Journal of Inherited Metabolic Disease
|
May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Toni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 84) with videos related to
Sort By:
Page
of 9
Stem Cell Research
|
January 13, 2023
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene
Giovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, et al.
Metabolic Brain Disease
|
November 28, 2017
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort
Raffaele Falsaperla, Maria Stella Vari, Irene Toldo, et al.
Seizure
|
August 5, 2025
Severe epilepsy phenotypes in adults with succinic semialdehyde dehydrogenase deficiency: Novel clinical and therapeutic insights from an Italian multicenter retrospective cohort study
Laura Canafoglia, Mario Mastrangelo, Marco Russo, et al.
Seizure
|
January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study
Mario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
JIMD Reports
|
May 3, 2014
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2021
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy
Beatrice De Maria, Simona Balestrini, Davide Mei, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
June 9, 2016
Epilepsy in KCNH1-related syndromes
Mario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, et al.
Molecular Genetics and Metabolism Reports
|
November 11, 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, et al.
Journal of Inherited Metabolic Disease
|
November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Journal of Inherited Metabolic Disease
|
May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Toni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Page
of 9