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E Bertini

Showing results (51-60 of 205) with videos related to

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Acta Neurologica Scandinavica|April 19, 2000
OXPHOS and mtDNA alterations in a family with spastic paraparesisF M Santorelli, F Piemonte, R Carrozzo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 1, 1995
Interferon-alpha may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathyM Sabatelli, T Mignogna, G Lippi, et al.
Neuropediatrics|February 1, 1994
Bilateral, reversible, selective thalamic involvement demonstrated by brain MR and acute severe neurological dysfunction with favorable outcomeR Cusmai, E Bertini, M Di Capua, et al.
Neurogenetics|September 6, 2012
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMRA Terracciano, N Specchio, F Darra, et al.
Italian Journal of Neurological Sciences|December 1, 1992
Biopsy diagnosis of a case of adult onset orthochromatic leukodystrophy. Clinical and brain biopsy findingsL Calandriello, C Matteucci, E Bertini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndromeE Bertini, M Sabatelli, M Di Capua, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|February 18, 2009
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndromeF Strigini, A Valleriani, M Cecchi, et al.
American Journal of Medical Genetics|July 1, 1989
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophyE Bertini, J L Gadisseux, G Palmieri, et al.
Biochemical and Biophysical Research Communications|May 8, 1998
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patientF M Santorelli, E Bertini, V Petruzzella, et al.
Neurology|July 6, 2000
Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patientsV Leuzzi, A Rinna, M Gallucci, et al.
Pageof 21

Showing results (51-60 of 205) with videos related to

Sort By:
Pageof 21
Acta Neurologica Scandinavica|April 19, 2000
OXPHOS and mtDNA alterations in a family with spastic paraparesisF M Santorelli, F Piemonte, R Carrozzo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 1, 1995
Interferon-alpha may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathyM Sabatelli, T Mignogna, G Lippi, et al.
Neuropediatrics|February 1, 1994
Bilateral, reversible, selective thalamic involvement demonstrated by brain MR and acute severe neurological dysfunction with favorable outcomeR Cusmai, E Bertini, M Di Capua, et al.
Neurogenetics|September 6, 2012
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMRA Terracciano, N Specchio, F Darra, et al.
Italian Journal of Neurological Sciences|December 1, 1992
Biopsy diagnosis of a case of adult onset orthochromatic leukodystrophy. Clinical and brain biopsy findingsL Calandriello, C Matteucci, E Bertini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndromeE Bertini, M Sabatelli, M Di Capua, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|February 18, 2009
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndromeF Strigini, A Valleriani, M Cecchi, et al.
American Journal of Medical Genetics|July 1, 1989
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophyE Bertini, J L Gadisseux, G Palmieri, et al.
Biochemical and Biophysical Research Communications|May 8, 1998
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patientF M Santorelli, E Bertini, V Petruzzella, et al.
Neurology|July 6, 2000
Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patientsV Leuzzi, A Rinna, M Gallucci, et al.
Pageof 21