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Human Molecular Genetics
|
August 15, 2019
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
Cristiana Pelorosso, Françoise Watrin, Valerio Conti, et al.
Brain : a Journal of Neurology
|
July 2, 2019
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model
Kevin Lüthy, Davide Mei, Baptiste Fischer, et al.
Cerebral Cortex (New York, N.Y. : 1991)
|
July 10, 2023
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
Nicola Specchio, Marina Trivisano, Matteo Lenge, et al.
Annals of Neurology
|
July 3, 2003
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations
Renzo Guerrini, Francesca Moro, Eva Andermann, et al.
Brain : a Journal of Neurology
|
March 23, 2013
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2
Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, et al.
Clinical Genetics
|
August 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders
Miriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Brain & Development
|
January 22, 2021
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
Domenica Battaglia, Daniela Chieffo, Simona Lucibello, et al.
Human Molecular Genetics
|
November 11, 2008
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia
Russell J Ferland, Luis Federico Batiz, Jason Neal, et al.
Brain : a Journal of Neurology
|
April 19, 2018
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, et al.
Page
of 11
Search research articles
Search
Showing results (61-70 of 110) with videos related to
Sort By:
Page
of 11
Human Molecular Genetics
|
August 15, 2019
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
Cristiana Pelorosso, Françoise Watrin, Valerio Conti, et al.
Brain : a Journal of Neurology
|
July 2, 2019
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model
Kevin Lüthy, Davide Mei, Baptiste Fischer, et al.
Cerebral Cortex (New York, N.Y. : 1991)
|
July 10, 2023
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
Nicola Specchio, Marina Trivisano, Matteo Lenge, et al.
Annals of Neurology
|
July 3, 2003
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations
Renzo Guerrini, Francesca Moro, Eva Andermann, et al.
Brain : a Journal of Neurology
|
March 23, 2013
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2
Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, et al.
Clinical Genetics
|
August 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders
Miriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Brain & Development
|
January 22, 2021
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
Domenica Battaglia, Daniela Chieffo, Simona Lucibello, et al.
Human Molecular Genetics
|
November 11, 2008
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia
Russell J Ferland, Luis Federico Batiz, Jason Neal, et al.
Brain : a Journal of Neurology
|
April 19, 2018
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, et al.
Page
of 11