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Neuromuscul Disord 2018 Oct 30. Epub 2018 Oct 30.

Roche Innovation Center, Hoffmann-La Roche Ltd., Grenzacherstrasse 124, CH-4070 Basel, Switzerland.

Spinal muscular atrophy (SMA) is a rare genetic and progressively debilitating neuromuscular disease. It is the leading genetic cause of death among infants. In SMA, low levels of survival of motor neuron (SMN) protein lead to motor neuron death and muscle atrophy as the SMN protein is critical to motor neuron survival. Read More

Clin Neurophysiol 2018 Dec 5. Epub 2018 Dec 5.

Barts and the London School of Medicine, QMUL, London, UK; Institute of Neuroscience, University of Lisbon, Portugal. Electronic address:

Pediatr Pulmonol 2018 Dec 12. Epub 2018 Dec 12.

Department of Pediatrics, Ohio State University, Columbus, Ohio.

Background: Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent-ventilation by 13.6 months. This study assessed the health outcomes of SMA1 infants treated with AVXS-101 gene replacement therapy. Read More

Neuroimage Clin 2018 Nov 28. Epub 2018 Nov 28.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry, Londonderry, United Kingdom. Electronic address:

Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models. The objective of this study is the characterisation of spinal and cerebral pathology in adult forms of SMA using multimodal quantitative imaging. Read More

Chin Med J (Engl) 2018 Dec;131(24):2921-2929

Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, China.

Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA.

Methods: A total of 1494 children suspected with SMA were enrolled in this study. Read More

Rev Neurol 2018 Dec;67(12):513-514

Hospital General de Ciudad Real, Ciudad Real, Espana.

J Mol Neurosci 2018 Dec 7. Epub 2018 Dec 7.

Applied Cell Sciences and Tissue Engineering Department, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Cell therapy and stem cell transplantation strategies have provided potential therapeutic approaches for the treatment of neurological disorders. Adipose-derived mesenchymal stem cells (ADMSCs) are abundant adult stem cells with low immunogenicity, which can be used for allogeneic cell replacement therapies. Differentiation of ADMSCs into acetylcholine-secreting motoneurons (MNs) is a promising treatment for MN diseases, such as spinal muscular atrophy (SMA), which is associated with the level of SMN1 gene expression. Read More

Clin Neurophysiol 2018 Nov 24. Epub 2018 Nov 24.

Department of Neurology, Technische Universität Dresden, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany. Electronic address:

Objective: There is still insufficient knowledge about natural history in adult spinal muscular atrophy, thus valid markers for treatment and disease monitoring are urgently needed.

Methods: We studied hand muscle innervation pattern of 38 adult genetically confirmed 5q spinal muscular atrophy (SMA) patients by the motor unit number index (MUNIX) method. Data were compared to healthy controls and amyotrophic lateral sclerosis (ALS) patients and systematically correlated to typical disease-relevant scores and other clinical as well as demographic characteristics. Read More

Pharmacol Res Perspect 2018 12 29;6(6):e00447. Epub 2018 Nov 29.

Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.

Spinal muscular atrophy (SMA) is a rare, inherited neuromuscular disease caused by deletion and/or mutation of the Survival of Motor Neuron 1 ( gene. A second gene, , produces low levels of functional SMN protein that are insufficient to fully compensate for the lack of . Risdiplam (RG7916; RO7034067) is an orally administered, small-molecule pre-mRNA splicing modifier that distributes into the central nervous system (CNS) and peripheral tissues. Read More

J Child Neurol 2018 Dec 5:883073818811544. Epub 2018 Dec 5.

1 Ersta Sköndal Bräcke University College, Department of Health Care Sciences, Palliative Research Centre, Stockholm, Sweden.

Background And Aims:: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory failure. To design a care system adapted to families' needs, more knowledge about parents' experience of care and its coordination between settings is required. This study explores (1) whether parents felt that health professionals took every opportunity to help the child feel as good as possible, (2) parents' satisfaction with various care settings, and (3) parents' satisfaction with coordination between settings. Read More

Brain Sci 2018 Dec 4;8(12). Epub 2018 Dec 4.

School of Medicine, Keele University, Staffordshire ST5 5BG, UK.

Unravelling the complex molecular pathways responsible for motor neuron degeneration in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) remains a persistent challenge. Interest is growing in the potential molecular similarities between these two diseases, with the hope of better understanding disease pathology for the guidance of therapeutic development. The aim of this study was to conduct a comparative analysis of published proteomic studies of ALS and SMA, seeking commonly dysregulated molecules to be prioritized as future therapeutic targets. Read More

PLoS One 2018 29;13(11):e0208255. Epub 2018 Nov 29.

Department of Neurology, University of California San Francisco, San Francisco, California, United States of America.

Background: The spectrum of motor neuron disease (MND) includes numerous phenotypes with various life expectancies. The degree of upper and lower motor neuron involvement can impact prognosis. Phase sensitive inversion recovery (PSIR) imaging has been shown to detect in vivo gray matter (GM) and white matter (WM) atrophy in the spinal cord of other patient populations but has not been explored in MND. Read More

Hum Mol Genet 2018 Nov 27. Epub 2018 Nov 27.

Scholar Rock Inc., 620 Memorial Drive, Cambridge, MA.

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by loss of α-motor neurons, leading to profound skeletal muscle atrophy. Patients also suffer from decreased bone mineral density and increased fracture risk. The majority of treatments for SMA, approved or in clinic trials, focus on addressing the underlying cause of disease, insufficient production of full-length SMN protein. Read More

Disabil Health J 2018 Nov 15. Epub 2018 Nov 15.

Department of Physical Medicine & Rehabilitation, SUNY Upstate Medical University, Syracuse, NY, 13244, USA.

Background: The varied use of the term "disability" in the scientific literature makes it challenging to conduct systematic reviews of health issues among people with disability. Utilizing general disability search terms has been suggested as an efficient way to ensure a broad capture of the literature related to disability.

Objectives: This study evaluates the utility of general disability terms versus condition-specific terms, in the context of systematically searching for articles related to disability and other conditions or issues, in this case, opioid use. Read More

J Neurol 2018 Nov 20. Epub 2018 Nov 20.

Department of Orthopedic Surgery, RKU-University and Rehabilitation Clinics, Ulm University, Ulm, Germany.

Spinal muscular atrophy is a genetic motor neuron disease that leads to progressive muscular atrophy and muscle weakness. In December 2016, the Food and Drug Administration, and in June 2017, the European Medicines Agency approved the antisense oligonucleotide nusinersen for treatment of spinal muscular atrophy. Nusinersen has to be repeatedly administered intrathecally. Read More

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:2136-2141

Injuries, accidents, strokes, and other diseases can significantly degrade the capabilities to perform even the most simple activities in daily life. While assistive technology becomes more and more available to the people affected, there is still a big need for user interfaces suitable for people without functional hand movement. A large share of these cases involves neuromuscular diseases, which lead to severely reduced muscle function. Read More

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:1713-1718

For paralyzed people activities of daily living like eating or drinking are impossible without external assistance. Robotic assistance systems can give these people a part of their independence back. Especially if the operation with a joystick is not possible anymore due to a missing hand function, people need innovative interfaces to control assistive robots in 3D. Read More

Am J Phys Med Rehabil 2018 Dec;97(12):873-878

From the Children's Specialized Hospital, Clifton, New Jersey (HAS); Touro College, Executive Office, New York, New York (EA); Cornell University Joan and Sanford I Weill Medical College, New York, New York (AH); New York-Presbyterian Hospital, New York, New York (XW, PT, RA, HK); and Blythedale Children's Hospital, New York, New York (XW, PT, RA, HK).

Objective: The aim of the study was to investigate the safety and efficacy of onabotulinum toxin A injection to the salivary glands under ultrasound guidance for the treatment of sialorrhea in patients with spinal muscular atrophy type I.

Design: Prospective case series with four patients with spinal muscular atrophy type I who received onabotulinum toxin A injection to parotid and submandibular glands for sialorrhea as part of clinical care. All four patients received validated surveys for measuring drooling, including objective measures of number of bib changes, and number of mouth wipes before injection and 4-6 wks after injection. Read More

Can J Neurol Sci 2018 Nov;45(6):605-619

2Department of Neurology and Clinical Neurophysiology,Donders Institute for Brain,Cognition and Behaviour,Radboud University Medical Center,Nijmegen,The Netherlands.

Advances in high-resolution ultrasound have provided clinicians with unique opportunities to study diseases of the peripheral nervous system. Ultrasound complements the clinical and electrophysiology exam by showing the degree of abnormalities in myopathies, as well as spontaneous muscle activities in motor neuron diseases and other disorders. In experienced hands, ultrasound is more sensitive than MRI in detecting peripheral nerve pathologies. Read More

Neurol Sci 2018 Nov 15. Epub 2018 Nov 15.

Child Neurology Department, the NEMO Clinical Center, Policlinico Universitario "A. Gemelli", Rome, Italy.

Nusinsersen is now available in Italy for all SMA types. We describe the experience with intrathecal treatment with nusinersen in 50 patients with SMA at the NEMO Center (NEuroMuscular Omniservice Clinical Center) in Milan, a neuromuscular patient-centered clinic hosted within Niguarda Hospital, a National Public General Hospital. Our results indicate that the pathway of care described outweighs the burden due to the repeated intrathecal injections. Read More

Paediatr Respir Rev 2018 09 12;28:1-2. Epub 2018 Jul 12.

Department of Neurology, Sydney Children's Hospitals Network, Sydney, Australia; Discipline of Paediatrics, School of Women's & Children's Health, UNSW Medicine, The University of New South Wales, Sydney, Australia.

Paediatr Respir Rev 2018 Sep 12;28:11-17. Epub 2018 Jul 12.

Department of Respiratory Medicine, Great Ormond Street Hospital, London, UK.

Spinal muscular atrophy [SMA] is the most common genetic cause of childhood mortality, primarily from the most severe form SMA type 1. It is a severe, progressive motor neurone disease, affecting the lower brainstem nuclei and the spinal cord. There is a graded level of severity with SMA children from a practical viewpoint described as "Non-sitters", "Sitters" and less commonly, "Ambulant" correlating with SMA Type 0/Type 1, Type 2 and Type 3 respectively. Read More

Zh Vopr Neirokhir Im N N Burdenko 2018 ;82(5):69-80

Irkutsk State Medical University, Irkutsk, Russia; Railway Clinical Hospital at the Irkutsk-Passenger Station, Irkutsk, Russia.

Spinal surgery in patients with overweight and obesity is associated with an increased risk of perioperative complications. Minimally invasive (MIS-TLIF) and traditional (O-TLIF) techniques of rigid stabilization are extensively used, but the advantages and disadvantages of MIS-TLIF in patients with an elevated body mass index (BMI) remain controversial.

Aim: The study aim was to assess the efficacy of a new low-invasive rigid fixation technique and traditional open spinal fusion in surgical treatment of degenerative lumbar spine diseases in patients with overweight and obesity. Read More

Lancet Neurol 2018 Dec 5;17(12):1083-1097. Epub 2018 Nov 5.

Background: Understanding how prevalence, incidence, and mortality of motor neuron diseases change over time and by location is crucial for understanding the causes of these disorders and for health-care planning. Our aim was to produce estimates of incidence, prevalence, and disability-adjusted life-years (DALYs) for motor neuron diseases for 195 countries and territories from 1990 to 2016 as part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016.

Methods: The motor neuron diseases included in this study were amyotrophic lateral sclerosis, spinal muscular atrophy, hereditary spastic paraplegia, primary lateral sclerosis, progressive muscular atrophy, and pseudobulbar palsy. Read More

Rev Neurol (Paris) 2018 Nov 5. Epub 2018 Nov 5.

Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

Atypical motor neuron disease represents a rare heterogeneous group of neurodegenerative disorders with clinical, genetic and neuroimaging features distinct from those of the classic spinal or bulbar-onset amyotrophic lateral sclerosis (ALS). O'Sullivan-McLeod syndrome represents an extremely rare lower motor neuronopathy with early adult-onset distal amyotrophy and weakness in the upper limbs with asymmetrical involvement. To add to the few case series and epidemiological and genetic studies describing this variant syndrome, our team here presents a series of seven unrelated Brazilian patients with O'Sullivan-McLeod syndrome in a detailed review of their clinical, neuroimaging, laboratory and neurophysiological findings. Read More

Neuromuscul Disord 2018 Dec 5;28(12):1016-1021. Epub 2018 Oct 5.

University Hospital of North Midlands NHS Trust, United Kingdom.

Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy. Read More

Brain Res 2018 Nov 5. Epub 2018 Nov 5.

Walther Hall, R3 C636, 980 West Walnut Street, Indianapolis, IN 46202 317-278-7319, United States. Electronic address:

We report here the finding of abnormal Golgi apparatus morphology in motor neuron like cells depleted of SMN as well as Golgi apparatus morphology in SMA patient fibroblasts. Rescue experiments demonstrate that this abnormality is dependent on SMN, but can also be rescued by expression of the COPI coatomer subunit alpha-COP. A motor neuron-like cell line containing an inducible alpha-COP shRNA was created to generate a parallel system to study knockdown of SMN or alpha-COP. Read More

J Med Chem 2018 Nov 8. Epub 2018 Nov 8.

Spinal muscular atrophy (SMA), a rare neuromuscular disorder, is the leading genetic cause of death in infants and toddlers. SMA is caused by the deletion or a loss of function mutation of the survival motor neuron 1 (SMN1) gene. In humans, a second closely related gene SMN2 exists, however it codes for a less stable SMN protein. Read More

Orthop Surg 2018 Nov 7;10(4):296-305. Epub 2018 Nov 7.

Department of Orthopedics, Sir Run Run Shaw Hospital, Medical College of Zhejiang University, Hangzhou, China.

Objective: To compare postoperative imaging results, clinical outcomes and complications between the multifidus muscle bundle (MMB) approach and the conventional open (CO) approach in one-level posterior lumbar interbody fusion (PLIF).

Methods: Based on the inclusion and exclusion criteria, 201 of 351 patients in our hospital were enrolled in this prospective study and underwent MMB-PLIF or CO-PLIF randomly: 111 patients in the MMB-PLIF group and 90 patients in the CO-PLIF group. A total of 100 patients failed to be followed up in the following 7-9 years. Read More

Int J Biol Macromol 2018 Nov 3;122:587-593. Epub 2018 Nov 3.

CSIR-National Chemical Laboratory, Dr Homi Bhabha Road, Pune 411008, India. Electronic address:

Acid ceramidase (N-acylsphingosine deacylase EC 3.5.1. Read More

Nucleic Acids Res 2018 Dec;46(22):11939-11951

Department of Cell Biology, Harvard Medical School, 240 Longwood Ave. Boston MA 02115, USA.

Understanding the molecular pathways disrupted in motor neuron diseases is urgently needed. Here, we employed CRISPR knockout (KO) to investigate the functions of four ALS-causative RNA/DNA binding proteins (FUS, EWSR1, TAF15 and MATR3) within the RNAP II/U1 snRNP machinery. We found that each of these structurally related proteins has distinct roles with FUS KO resulting in loss of U1 snRNP and the SMN complex, EWSR1 KO causing dissociation of the tRNA ligase complex, and TAF15 KO resulting in loss of transcription factors P-TEFb and TFIIF. Read More

Paediatr Respir Rev 2018 Sep 24;28:18-25. Epub 2018 Jul 24.

Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

Spinal muscular atrophy (SMA) is a degenerative motor neurone disorder causing progressive muscular weakness. Without assisted ventilation or novel therapies, most children with SMA type 1 die before the second year of life due to respiratory failure as the respiratory muscles and bulbar function are severely affected. Active respiratory treatment (mechanically assisted cough, invasive or non-invasive ventilation) has improved survival significantly in recent decades, but often at the cost of becoming ventilator dependent. Read More

Neurobiol Dis 2018 Nov 1;124:1-13. Epub 2018 Nov 1.

Stem Cell and Regenerative Biology, Genome Institute of Singapore, Singapore 138672, Singapore. Electronic address:

Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of polyglutamine region in the androgen receptor. To gain insights into mechanisms of SBMA, four wild-type and five SBMA iPSC lines were differentiated to spinal motor neurons (sMNs) with high efficiency. SBMA sMNs showed neurite defects, reduced sMN survival and decreased protein synthesis levels. Read More

Neuromuscul Disord 2018 Dec 29;28(12):1012-1015. Epub 2018 Aug 29.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3AR, UK. Electronic address:

Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and CMT2S. We describe a patient who developed progressive muscle weakness and wasting in her upper and lower limbs from infancy. She developed respiratory involvement at age 9, eventually requiring 24-h non-invasive ventilation, and severe autonomic dysfunction restricted to the gastrointestinal tract. Read More

Ir Med J 2018 03 14;111(3):705. Epub 2018 Mar 14.

Dept of Neurology, Children's University Hospital, Temple Street, Dublin 1.

Cell Death Dis 2018 Oct 27;9(11):1100. Epub 2018 Oct 27.

Institute of Molecular and Cell Biology, 61 Biopolis Drive, Singapore, 138673, Singapore.

Spinal Muscular Atrophy (SMA) is caused by genetic mutations in the SMN1 gene, resulting in drastically reduced levels of Survival of Motor Neuron (SMN) protein. Although SMN is ubiquitously expressed, spinal motor neurons are one of the most affected cell types. Previous studies have identified pathways uniquely activated in SMA motor neurons, including a hyperactivated ER stress pathway, neuronal hyperexcitability, and defective spliceosomes. Read More

Front Neurol 2018 10;9:844. Epub 2018 Oct 10.

Laboratoire d'Imagerie Biomédicale, CNRS, INSERM, Sorbonne Université, Paris, France.

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked, late onset neuromuscular disorder. The disease is caused by a CAG trinucleotide repeat expansion in the first exon of the androgen receptor gene. It is characterized by slowly progressive lower motor neurons degeneration, primary myopathy and widespread multisystem involvement. Read More

Circ Res 2018 Aug;123(5):601-613

From the Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, New York, NY.

In the past 10 years, there has been tremendous progress made in the field of gene therapy. Effective treatments of Leber congenital amaurosis, hemophilia, and spinal muscular atrophy have been largely based on the efficiency and safety of adeno-associated vectors. Myocardial gene therapy has been tested in patients with heart failure using adeno-associated vectors with no safety concerns but lacking clinical improvements. Read More

Clin Chem 2018 Dec 23;64(12):1753-1761. Epub 2018 Oct 23.

Departments of Laboratory Medicine and Pathology.

Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder with neuronal degeneration leading to muscular atrophy and respiratory failure. SMA is frequently caused by homozygous deletions that include exon 7 of the survival motor neuron gene , and its clinical course is influenced by the copy number of a nearby 5q paralog, . Multiple ligation probe amplification (MLPA) and real-time quantitative PCR (qPCR) can detect deletions. Read More

Biochem Biophys Res Commun 2018 Nov 22;506(3):463-470. Epub 2018 Oct 22.

Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY, 10032, USA. Electronic address:

Stasimon (also known as Tmem41b) is an evolutionarily conserved transmembrane protein first identified for its contribution to motor system dysfunction in animal models of the childhood neurodegenerative disease spinal muscular atrophy (SMA). Stasimon was shown to be required for normal neurotransmission in the motor circuit of Drosophila larvae and proper development of motor axons in zebrafish embryos as well as to suppress analogous neuronal phenotypes in SMA models of these organisms. However, the subcellular localization and molecular functions of Stasimon are poorly understood. Read More

Eur J Neurol 2018 Oct 23. Epub 2018 Oct 23.

Department of Neurosciences, University of Padova, Padova, Italy.

Background And Purpose: Literature data on spinal and bulbar muscular atrophy (SBMA) epidemiology are limited and restricted to specific populations. The aim of our study was to accurately collect information about SBMA patients living in the Veneto region in Italy to compute reliable epidemiological data. Androgen receptor (AR) lineages were genotyped to evaluate the presence of a founder effect. Read More

Clin Imaging 2019 Jan - Feb;53:134-137. Epub 2018 Oct 5.

Department of Radiology, University of Florida College of Medicine, 1600 SW Archer Road, Gainesville, FL 32610, USA. Electronic address:

Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. Ventral spinal root atrophy is a consistent pathological finding in post-mortem examinations of patients who suffered from various subtypes of spinal muscular atrophy; however, corresponding radiographic findings have not been previously reported. We present a patient with hypotonia and weakness who was found to have ventral spinal root atrophy in the lumbosacral region on MRI and was subsequently diagnosed with spinal muscular atrophy. Read More

Lancet Neurol 2018 Dec 15;17(12):1026-1027. Epub 2018 Oct 15.

Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan. Electronic address:

Lancet Neurol 2018 Dec 15;17(12):1043-1052. Epub 2018 Oct 15.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Background: Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by CAG repeat expansion in the androgen receptor gene. Patients with this disease have low concentrations of insulin-like growth factor-1 (IGF-1), and studies of overexpression and administration of IGF-1 showed benefit in a transgenic model; thus the IGF-1 pathway presents as a potential treatment target. We assessed safety, tolerability, and preliminary efficacy of BVS857, an IGF-1 mimetic, in patients with spinal and bulbar muscular atrophy. Read More

Autophagy 2018 Oct 18:1-21. Epub 2018 Oct 18.

a Dipartimento di Scienze Farmacologiche e Biomolecolari (DiSFeB), Centro di Eccellenza sulle Malattie Neurodegenerative , Università degli Studi di Milano , Milano , Italy.

Macroautophagy/autophagy, a defense mechanism against aberrant stresses, in neurons counteracts aggregate-prone misfolded protein toxicity. Autophagy induction might be beneficial in neurodegenerative diseases (NDs). The natural compound trehalose promotes autophagy via TFEB (transcription factor EB), ameliorating disease phenotype in multiple ND models, but its mechanism is still obscure. Read More

Adv Neurobiol 2018 ;21:267-281

Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

Systems biology uses a combination of experimental and mathematical approaches to investigate the complex and dynamic interactions with a given system or biological process. Systems biology integrates genetics, signal transduction, biochemistry and cell biology with mathematical modeling. It can be used to identify novel pathways implicated in diseases as well as to understand the mechanisms by which a specific gene is regulated. Read More