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Marika Pane

Showing results (61-70 of 221) with videos related to

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Muscle & Nerve|September 9, 2024
Ultrasound assisted versus landmark based intrathecal administration of nusinersen in adults with spinal muscular atrophy disease: A randomized trialBruno Antonio Zanfini, Stefano Catarci, Agata Katia Patanella, et al.
Frontiers in Genetics|November 16, 2020
A Recurrent Pathogenic Variant of <i>INPP5K</i> Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern ItalyAdele D'Amico, Fabiana Fattori, Francesco Nicita, et al.
Neuromuscular Disorders : NMD|June 27, 2008
Daily salbutamol in young patients with SMA type IIMarika Pane, Susanna Staccioli, Sonia Messina, et al.
European Journal of Pediatrics|May 3, 2022
Assessing floppy infants: a new moduleCostanza Cutrona, Elisa Pede, Roberto De Sanctis, et al.
Genes|August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.
Human Mutation|March 25, 2009
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophyElena Martoni, Anna Urciuolo, Patrizia Sabatelli, et al.
Medicina (Kaunas, Lithuania)|November 27, 2021
Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular DystrophyClaudia Brogna, Lara Cristiano, Tommaso Verdolotti, et al.
Genes|December 24, 2021
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double DiagnosisElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
European Journal of Human Genetics : EJHG|July 16, 2009
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCRFrancesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori, et al.
Orphanet Journal of Rare Diseases|April 7, 2020
Longitudinal natural history of type I spinal muscular atrophy: a critical reviewEugenio Mercuri, Simona Lucibello, Marco Perulli, et al.
Pageof 23

Showing results (61-70 of 221) with videos related to

Sort By:
Pageof 23
Muscle & Nerve|September 9, 2024
Ultrasound assisted versus landmark based intrathecal administration of nusinersen in adults with spinal muscular atrophy disease: A randomized trialBruno Antonio Zanfini, Stefano Catarci, Agata Katia Patanella, et al.
Frontiers in Genetics|November 16, 2020
A Recurrent Pathogenic Variant of <i>INPP5K</i> Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern ItalyAdele D'Amico, Fabiana Fattori, Francesco Nicita, et al.
Neuromuscular Disorders : NMD|June 27, 2008
Daily salbutamol in young patients with SMA type IIMarika Pane, Susanna Staccioli, Sonia Messina, et al.
European Journal of Pediatrics|May 3, 2022
Assessing floppy infants: a new moduleCostanza Cutrona, Elisa Pede, Roberto De Sanctis, et al.
Genes|August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.
Human Mutation|March 25, 2009
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophyElena Martoni, Anna Urciuolo, Patrizia Sabatelli, et al.
Medicina (Kaunas, Lithuania)|November 27, 2021
Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular DystrophyClaudia Brogna, Lara Cristiano, Tommaso Verdolotti, et al.
Genes|December 24, 2021
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double DiagnosisElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
European Journal of Human Genetics : EJHG|July 16, 2009
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCRFrancesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori, et al.
Orphanet Journal of Rare Diseases|April 7, 2020
Longitudinal natural history of type I spinal muscular atrophy: a critical reviewEugenio Mercuri, Simona Lucibello, Marco Perulli, et al.
Pageof 23