相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR
Ludwig Czibere et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
New treatments in spinal muscular atrophy: an overview of currently available data
Sithara Ramdas et al.
EXPERT OPINION ON PHARMACOTHERAPY (2020)
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients
Irene Faravelli et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2020)
Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy
Tobias Kessler et al.
JOURNAL OF NEUROCHEMISTRY (2020)
Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019
Eugenio Mercuri et al.
NEUROMUSCULAR DISORDERS (2020)
Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease
Crystal Jing Jing Yeo et al.
PEDIATRIC NEUROLOGY (2020)
Will the US$5 million onasemnogene abeparvosec treatment for spinal muscular atrophy represent 'value for money' for the NHS? A rapid inquiry into suggestions that it may be cost-effective
Martin Connock et al.
EXPERT OPINION ON BIOLOGICAL THERAPY (2020)
New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?
Tai-Heng Chen
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Maria Carmela Pera et al.
PLOS ONE (2020)
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Wolfgang Mueller-Felber et al.
JOURNAL OF NEUROMUSCULAR DISEASES (2020)
Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care
David C. Schorling et al.
JOURNAL OF NEUROMUSCULAR DISEASES (2020)
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients
Silvia Bonanno et al.
BIOMEDICINES (2020)
Drug treatment for spinal muscular atrophy types II and III
Renske Wadman et al.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS (2020)
Newborn screening for SMA in Southern Belgium
Francois Boemer et al.
NEUROMUSCULAR DISORDERS (2019)
NFL is a marker of treatment response in children with SMA treated with nusinersen
Bob Olsson et al.
JOURNAL OF NEUROLOGY (2019)
Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy
Linda P. Lowes et al.
PEDIATRIC NEUROLOGY (2019)
Neurofilament as a potential biomarker for spinal muscular atrophy
Basil T. Darras et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2019)
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data
Marika Pane et al.
ANNALS OF NEUROLOGY (2019)
Fast skeletal muscle troponin activator CK-2066260 increases fatigue resistance by reducing the energetic cost of muscle contraction
Arthur J. Cheng et al.
JOURNAL OF PHYSIOLOGY-LONDON (2019)
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
Darryl C. De Vivo et al.
NEUROMUSCULAR DISORDERS (2019)
Development of an academic disease registry for spinal muscular atrophy
Eugenio Mercuri et al.
NEUROMUSCULAR DISORDERS (2019)
Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy
Didu S. T. Kariyawasam et al.
FRONTIERS IN NEUROLOGY (2019)
Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen
Andreas Totzeck et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): results from the SHINE study
J. Kirschner et al.
NEUROMUSCULAR DISORDERS (2019)
FIREFISH Part 1: 16-month safety and exploratory outcomes of risdiplam (RG7916) treatment in infants with type 1 spinal muscular atrophy
G. Baranello et al.
NEUROMUSCULAR DISORDERS (2019)
Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives
Tamara Dangouloff et al.
THERAPEUTICS AND CLINICAL RISK MANAGEMENT (2019)
A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier
Stefan Sturm et al.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY (2019)
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
Astrid Pechmann et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy
Sonia Messina et al.
NEUROMUSCULAR DISORDERS (2019)
Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1
Omar Dabbous et al.
ADVANCES IN THERAPY (2019)
Drug treatment for spinal muscular atrophy type I
Renske I. Wadman et al.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS (2019)
Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy
Kimberly K. Long et al.
HUMAN MOLECULAR GENETICS (2019)
One Year of Newborn Screening for SMA - Results of a German Pilot Project
Katharina Vill et al.
JOURNAL OF NEUROMUSCULAR DISEASES (2019)
AVXS-101 (Onasemnogene Abeparvovec) for SMA 1: Comparative Study with a Prospective Natural History Cohort
Samiah A. Al-Zaidy et al.
JOURNAL OF NEUROMUSCULAR DISEASES (2019)
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
Jennifer N. Kraszewski et al.
GENETICS IN MEDICINE (2018)
Regulation of Survival Motor Neuron Protein by the Nuclear Factor-Kappa B Pathway in Mouse Spinal Cord Motoneurons
Saravanan Arumugam et al.
MOLECULAR NEUROBIOLOGY (2018)
CK-2127107 amplifies skeletal muscle response to nerve activation in humans
Jinsy A. Andrews et al.
MUSCLE & NERVE (2018)
Severe Toxicity in Nonhuman Primates and Piglets Following High-Dose Intravenous Administration of an Adeno-Associated Virus Vector Expressing Human SMN
Christian Hinderer et al.
HUMAN GENE THERAPY (2018)
Nusinersen for SMA: expanded access programme
Michelle A. Farrar et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2018)
Autophagy inhibition: a new therapeutic target in spinal muscular atrophy
Antonio Piras et al.
NEURAL REGENERATION RESEARCH (2018)
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Richard S. Finkel et al.
NEUROMUSCULAR DISORDERS (2018)
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Maite Calucho et al.
NEUROMUSCULAR DISORDERS (2018)
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Eugenio Mercuri et al.
NEUROMUSCULAR DISORDERS (2018)
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function
Marika Pane et al.
NEUROMUSCULAR DISORDERS (2018)
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
E. Mercuri et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy
Marina Boido et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2018)
Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)
Hasane Ratni et al.
JOURNAL OF MEDICINAL CHEMISTRY (2018)
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1 A cohort study
Karolina Aragon-Gawinska et al.
NEUROLOGY (2018)
Pharmacological c-Jun NH2-Terminal Kinase (JNK) Pathway Inhibition Reduces Severity of Spinal Muscular Atrophy Disease in Mice
Roberta Schellino et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)
New Directions for SMA Therapy
Sonia Messina
JOURNAL OF CLINICAL MEDICINE (2018)
Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs
Agnes Poirier et al.
PHARMACOLOGY RESEARCH & PERSPECTIVES (2018)
Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice
Jeong-Ki Kim et al.
HUMAN MOLECULAR GENETICS (2017)
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
Yin-Hsiu Chien et al.
JOURNAL OF PEDIATRICS (2017)
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience
Sonia Messina et al.
NEUROMUSCULAR DISORDERS (2017)
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
J. R. Mendell et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
R. S. Finkel et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy a literature review
Ingrid E. C. Verhaart et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers
Manaswini Sivaramakrishnan et al.
NATURE COMMUNICATIONS (2017)
Natural history of infantile-onset spinal muscular atrophy
Stephen J. Kolb et al.
ANNALS OF NEUROLOGY (2017)
Autophagy modulators regulate survival motor neuron protein stability in motoneurons
Ambika Periyakaruppiah et al.
EXPERIMENTAL NEUROLOGY (2016)
Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset
Zhihua Feng et al.
HUMAN MOLECULAR GENETICS (2016)
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
Richard S. Finkel et al.
LANCET (2016)
Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy
Claudia A. Chiriboga et al.
NEUROLOGY (2016)
Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy
Sara Olivan et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2016)
Genetic inhibition of JNK3 ameliorates spinal muscular atrophy
Naresh K. Genabai et al.
HUMAN MOLECULAR GENETICS (2015)
Fast Skeletal Muscle Troponin Activator tirasemtiv Increases Muscle Function and Performance in the B6SJL-SOD1G93A ALS Mouse Model
Darren T. Hwee et al.
PLOS ONE (2014)
How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches
Brunhilde Wirth et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2013)
Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy
Michelle A. Farrar et al.
JOURNAL OF PEDIATRICS (2013)
Spinal muscular atrophy: going beyond the motor neuron
Gillian Hamilton et al.
TRENDS IN MOLECULAR MEDICINE (2013)
Survival motor neuron protein reduction deregulates autophagy in spinal cord motoneurons in vitro
A. Garcera et al.
CELL DEATH & DISEASE (2013)
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens
Elaine A. Sugarman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Antisense-based therapy for the treatment of spinal muscular atrophy
Frank Rigo et al.
JOURNAL OF CELL BIOLOGY (2012)
Childhood spinal muscular atrophy: controversies and challenges
Eugenio Mercuri et al.
LANCET NEUROLOGY (2012)
Temporal requirement for high SMN expression in SMA mice
Thanh T. Le et al.
HUMAN MOLECULAR GENETICS (2011)
The Canonical Nuclear Factor-κB Pathway Regulates Cell Survival in a Developmental Model of Spinal Cord Motoneurons
Stefka Mincheva et al.
JOURNAL OF NEUROSCIENCE (2011)
Spinal muscular atrophy
Adele D'Amico et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
Yimin Hua et al.
GENES & DEVELOPMENT (2010)
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2010)
Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy
Chiara F. Valori et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy
Graham C. Parker et al.
NEUROTOXICITY RESEARCH (2008)
Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron
NK Singh et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
New insights on the evolution of the SMN1 and SMN2 region:: simulation and meta-analysis for allele and haplotype frequency calculations
S Ogino et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
分享论文
