Mario Saporta, MD, PhD
University of Miami
H-index: 26
North America-United States
Top articles of Mario Saporta, MD, PhD
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights | Brain | Adriana P Rebelo Clemer Abad Maike F Dohrn Jian J Li Ethan K Tieu | 2024/3/27 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 | The American Journal of Human Genetics | Maimuna S Paul Sydney L Michener Hongling Pan Hiuling Chan Jessica M Pfliger | 2024/1/4 |
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability | Proceedings of the National Academy of Sciences | Debdeep Dutta Oguz Kanca Rishi V Shridharan Paul C Marcogliese Benjamin Steger | 2024/2/27 |
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts | European journal of neurology | Andrea Cortese Riccardo Currò Riccardo Ronco Julian Blake Alex M Rossor | 2024/1 |
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis | Genetics in Medicine | Jenna Pucel Lauren C Briere Chloe Reuter Perman Gochyyev Maria T Acosta | 2024/6/1 |
De novo variants in DENND5B cause a neurodevelopmental disorder | The American Journal of Human Genetics | Marcello Scala Valeria Tomati Matteo Ferla Mariateresa Lena Julie S Cohen | 2024/2/16 |
Mechanisms of Neurodegeneration and Mini-gene Therapeutic Approach for Charcot-Marie-Tooth Disease Type 4B3 (S37. 007) | Elizabeth Jacobs Matt Danzi Adriana Rebelo Stephan Zuchner Mario Saporta | 2024/4/14 | |
Recurring homozygous ACTN2 variant (p. Arg506Gly) causes a recessive myopathy | Annals of clinical and translational neurology | Sandra Donkervoort Payam Mohassel Melanie O'Leary Devon E Bonner Taila Hartley | 2024/2/4 |
Pre-clinical Antisense Oligonucleotide Treatment of CMT2E in a Human Induced Pluripotent Stem Cell (iPSC)-derived Motor Neuron Model (S5. 008) | Jessica Medina Adriana Rebelo Elizabeth Jacobs Matt Danzi Stephan Zuchner | 2024/4/14 | |
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A | Journal of the Peripheral Nervous System | Isaac RL Xu Matt C Danzi Ariel Ruiz Jacquelyn Raposo Yeisha Arcia De Jesus | 2024/4/5 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
Bi-allelic variants in INTS11 are associated with a complex neurological disorder | The American Journal of Human Genetics | Burak Tepe Erica L Macke Marcello Niceta Monika Weisz Hubshman Oguz Kanca | 2023/5/4 |
Two new rare pathogenic variants in DES gene causing distal myofibrillar myopathy: Two cases of myofibrillar myopathy | RRNMF Neuromuscular Journal | Olimpia Carbunar Mario Saporta Sakir Gultekin | 2023/6/19 |
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs | Brain | Adriana P Rebelo Pedro J Tomaselli Jessica Medina Ying Wang Maike F Dohrn | 2023/10 |
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network | Genetics in Medicine | Rebecca C Spillmann Queenie K-G Tan Chloe Reuter Kelly Schoch Undiagnosed Diseases Network | 2023/4/1 |
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features | Genetics in Medicine | Jonathan C Andrews Jung-Wan Mok Oguz Kanca Sharayu Jangam Cynthia Tifft | 2023/6/1 |
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy | Genetics in medicine | Vandana Shashi Kelly Schoch Rebecca Ganetzky Peter G Kranz Neal Sondheimer | 2023/9/1 |
Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy | Brain | Anthony N Cutrupi Ramesh K Narayanan Gonzalo Perez-Siles Bianca R Grosz Kaitao Lai | 2023/3/1 |
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome | Annals of Clinical and Translational Neurology | Jonai Pujol‐Giménez Ghayda Mirzaa Elizabeth E Blue Giuseppe Albano Danny E Miller | 2023/6 |
Mitochondrial dysfunction characterized in human induced pluripotent stem cell disease models in MELAS syndrome: a brief summary | Kumarie Latchman Mario Saporta Carlos T Moraes | 2023/8/25 |
