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E Bertini

Showing results (121-130 of 205) with videos related to

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Pediatric Neurology|September 12, 2001
hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIAB Zhou, S K Bae, A C Malone, et al.
Brain : a Journal of Neurology|July 1, 1997
Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvementD Restuccia, V Di Lazzaro, M Valeriani, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 21, 2005
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathyS Benedetti, E Bertini, S Iannaccone, et al.
Data in Brief|September 28, 2020
Spatio-temporal parameters of ataxia gait dataset obtained with the KinectS Summa, G Tartarisco, M Favetta, et al.
Neurology|September 12, 2001
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndromeS Salvi, F M Santorelli, E Bertini, et al.
Neurology|July 27, 2001
Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27P Francalanci, E Eymard-Pierre, C Dionisi-Vici, et al.
The Journal of Pediatrics|January 1, 1994
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblastsA B Burlina, C Dionisi-Vici, M J Bennett, et al.
Neurology|October 15, 2003
Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunitV Petruzzella, G Di Giacinto, S Scacco, et al.
Neurology|December 21, 2007
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like diseaseM Henneke, P Combes, S Diekmann, et al.
Archives of Disease in Childhood|April 24, 2002
Antioxidant enzymes in blood of patients with Friedreich's ataxiaG Tozzi, M Nuccetelli, M Lo Bello, et al.
Pageof 21

Showing results (121-130 of 205) with videos related to

Sort By:
Pageof 21
Pediatric Neurology|September 12, 2001
hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIAB Zhou, S K Bae, A C Malone, et al.
Brain : a Journal of Neurology|July 1, 1997
Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvementD Restuccia, V Di Lazzaro, M Valeriani, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 21, 2005
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathyS Benedetti, E Bertini, S Iannaccone, et al.
Data in Brief|September 28, 2020
Spatio-temporal parameters of ataxia gait dataset obtained with the KinectS Summa, G Tartarisco, M Favetta, et al.
Neurology|September 12, 2001
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndromeS Salvi, F M Santorelli, E Bertini, et al.
Neurology|July 27, 2001
Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27P Francalanci, E Eymard-Pierre, C Dionisi-Vici, et al.
The Journal of Pediatrics|January 1, 1994
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblastsA B Burlina, C Dionisi-Vici, M J Bennett, et al.
Neurology|October 15, 2003
Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunitV Petruzzella, G Di Giacinto, S Scacco, et al.
Neurology|December 21, 2007
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like diseaseM Henneke, P Combes, S Diekmann, et al.
Archives of Disease in Childhood|April 24, 2002
Antioxidant enzymes in blood of patients with Friedreich's ataxiaG Tozzi, M Nuccetelli, M Lo Bello, et al.
Pageof 21