Metabolic Dysfunction in Spinal Muscular Atrophy

Nutritional Therapy in Children with Spinal Muscular Atrophy in the Era of Nusinersen

(2021) Anat Yerushalmy-Feler et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Nutrition status survey of type 2 and 3 spinal muscular atrophy in Chinese population

(2021) Yiyao Zhou et al.   NUTRITIONAL NEUROSCIENCE

The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy

(2021) Katherine S. Watson et al.   Brain Sciences

Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3

(2021) Stefan A. Djordjevic et al.   NEUROMUSCULAR DISORDERS

SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease

(2021) Marc-Olivier Deguise et al.   Cellular and Molecular Gastroenterology and Hepatology

Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients

(2021) Laura Bianchi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

(2021) John W Day et al.   LANCET NEUROLOGY

Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort

(2021) Leon Deutsch et al.   Metabolites

Evaluation of body composition as a potential biomarker in spinal muscular atrophy

(2020) Giovanni Baranello et al.   MUSCLE & NERVE

The endocrine manifestations of Spinal Muscular Atrophy, a real-life observational study

(2020) Avivit Brener et al.   NEUROMUSCULAR DISORDERS

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates

(2020) Henning Tim Langer et al.   Scientific Reports

Predictive energy equations for spinal muscular atrophy type I children

(2020) Simona Bertoli et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy

(2020) Marc-Olivier Deguise et al.   EBioMedicine

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

(2020) Anna A L Motyl et al.   HUMAN MOLECULAR GENETICS

Metabolic alterations in spinal and bulbar muscular atrophy

(2020) F. Francini-Pesenti et al.   REVUE NEUROLOGIQUE

Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy

(2020) Avivit Brener et al.   NEUROMUSCULAR DISORDERS

Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy

(2020) Yang-Jean Li et al.   Nutrients

Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments

(2019) Julia R. Dahlqvist et al.   NEUROLOGY

Gut microbiota in neurodegenerative disorders

(2019) Suparna Roy Sarkar et al.   JOURNAL OF NEUROIMMUNOLOGY

Mechanisms of exercise‐induced survival motor neuron expression in the skeletal muscle of spinal muscular atrophy‐like mice

(2019) Sean Y Ng et al.   JOURNAL OF PHYSIOLOGY-LONDON

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

(2019) Marc‐Olivier Deguise et al.   Annals of Clinical and Translational Neurology

Development of malignancies and changes in time-dependent hemoglobin A1c among a nondiabetic population: longitudinal analysis

(2019) Daiki Kobayashi et al.   ACTA DIABETOLOGICA

Abnormal coagulation parameters are a common non-neuromuscular feature in patients with spinal muscular atrophy

(2019) Camiel A Wijngaarde et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Low-Intensity Running and High-Intensity Swimming Exercises Differentially Improve Energy Metabolism in Mice With Mild Spinal Muscular Atrophy

(2019) Léo Houdebine et al.   Frontiers in Physiology

Exercise training: thinking ahead to counteract systemic manifestations of spinal muscular atrophy

(2019) Christiano R. R. Alves   JOURNAL OF PHYSIOLOGY-LONDON

Low fat diets increase survival of a mouse model of spinal muscular atrophy

(2019) Marc‐Olivier Deguise et al.   Annals of Clinical and Translational Neurology

Hypoglycaemia in patients with type 1 SMA: an underdiagnosed problem?

(2019) Beatrice Berti et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Energy metabolism in ALS: an underappreciated opportunity?

(2018) Tijs Vandoorne et al.   ACTA NEUROPATHOLOGICA

The role of survival motor neuron protein (SMN) in protein homeostasis

(2018) Helena Chaytow et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

OUP accepted manuscript

(2018)   HUMAN MOLECULAR GENETICS

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

(2018) Angela Rosenbohm et al.   JOURNAL OF NEUROLOGY

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

(2018) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Sphingolipid Metabolism Is Dysregulated at Transcriptomic and Metabolic Levels in the Spinal Cord of an Animal Model of Amyotrophic Lateral Sclerosis

(2018) Alexandre Henriques et al.   Frontiers in Molecular Neuroscience

Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice

(2018) Lisa M. Walter et al.   EBioMedicine

A severe mouse model of spinal muscular atrophy develops early systemic inflammation

(2018) Bo Wan et al.   HUMAN MOLECULAR GENETICS

Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes

(2018) Nicole Hellbach et al.   PLoS One

Life course body mass index and risk and prognosis of amyotrophic lateral sclerosis: results from the ALS registry Swabia

(2017) Raphael Simon Peter et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

(2017) Melissa Bowerman et al.   European Journal of Medical Genetics

Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice

(2017) Marc-Olivier Deguise et al.   HUMAN MOLECULAR GENETICS

Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy

(2017) Samantha L. Sison et al.   HUMAN MOLECULAR GENETICS

Correlation of insulin resistance and motor function in spinal and bulbar muscular atrophy

(2017) Hideaki Nakatsuji et al.   JOURNAL OF NEUROLOGY

Blood hemoglobin A1c levels and amyotrophic lateral sclerosis survival

(2017) Qian-Qian Wei et al.   Molecular Neurodegeneration

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy

(2017) Robert D. Guber et al.   NEUROLOGY

Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity

(2017) Halley M. Wasserman et al.   NEUROMUSCULAR DISORDERS

218th ENMC International Workshop:

(2017) Richard S. Finkel et al.   NEUROMUSCULAR DISORDERS

Cardiac pathology in spinal muscular atrophy: a systematic review

(2017) C. A. Wijngaarde et al.   Orphanet Journal of Rare Diseases

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

(2017) Ingrid E. C. Verhaart et al.   Orphanet Journal of Rare Diseases

Specific Physical Exercise Improves Energetic Metabolism in the Skeletal Muscle of Amyotrophic-Lateral- Sclerosis Mice

(2017) Céline Desseille et al.   Frontiers in Molecular Neuroscience

Voxel-based mapping of grey matter volume and glucose metabolism profiles in amyotrophic lateral sclerosis

(2017) M-S. Buhour et al.   EJNMMI Research

Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III

(2017) Heike Kölbel et al.   PLoS One

Adipokines, C-reactive protein and Amyotrophic Lateral Sclerosis – results from a population- based ALS registry in Germany

(2017) Gabriele Nagel et al.   Scientific Reports

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

(2016) Anna Rocchi et al.   ACTA NEUROPATHOLOGICA

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

(2016) Seyyedmohsen Hosseinibarkooie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonalcoholic Fatty Liver Disease: Pathogenesis and Disease Spectrum

(2016) Timothy Hardy et al.   Annual Review of Pathology-Mechanisms of Disease

The biology of glucagon and the consequences of hyperglucagonemia

(2016) Nicolai J Wewer Albrechtsen et al.   Biomarkers in Medicine

HbA1c Levels and Long-Term Mortality in Patients Undergoing Coronary Angiography

(2016) Ofer Havakuk et al.   CARDIOLOGY

Gut Microbiota Regulate Motor Deficits and Neuroinflammation in a Model of Parkinson’s Disease

(2016) Timothy R. Sampson et al.   CELL

A high-fat jelly diet restores bioenergetic balance and extends lifespan in the presence of motor dysfunction and lumbar spinal cord motor neuron loss in TDP-43A315Tmutant C57BL6/J mice

(2016) Karen S. Coughlan et al.   Disease Models & Mechanisms

Effect of genetic background on the phenotype of theSmn2B/-mouse model of spinal muscular atrophy

(2016) Mehdi Eshraghi et al.   HUMAN MOLECULAR GENETICS

Defects in Motoneuron–Astrocyte Interactions in Spinal Muscular Atrophy

(2016) Chunyi Zhou et al.   JOURNAL OF NEUROSCIENCE

Low testosterone and non-alcoholic fatty liver disease: Evidence for their independent association in men with chronic spinal cord injury

(2016) Arcangelo Barbonetti et al.   JOURNAL OF SPINAL CORD MEDICINE

What Clinical Laboratorians Should Do in Response to Extremely Low Hemoglobin A1c Results

(2016) Ping Wang   Labmedicine

Amyotrophic lateral sclerosis and frontotemporal dementia: distinct and overlapping changes in eating behaviour and metabolism

(2016) Rebekah M Ahmed et al.   LANCET NEUROLOGY

Serum IGF1 and IGFBP3 levels in SMA patients

(2016) A. Yesbek Kaymaz et al.   NEUROMUSCULAR DISORDERS

Describing nutrition in spinal muscular atrophy: A systematic review

(2016) Georgia E. Moore et al.   NEUROMUSCULAR DISORDERS

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

(2016) Thomas Koed Doktor et al.   NUCLEIC ACIDS RESEARCH

Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy

(2016) Nilesh M. Mehta et al.   PEDIATRIC NEUROLOGY

Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy

(2016) Yu-Ting Tseng et al.   PHARMACOLOGICAL RESEARCH

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment

(2016) Palittiya Sintusek et al.   PLoS One

Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy

(2016) Marc-Olivier Deguise et al.   Scientific Reports

What Clinical Laboratorians Should Do in Response to Extremely Low Hemoglobin A1c Results

(2016) Ping Wang   LABORATORY MEDICINE

Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy

(2016) Eric W. Ottesen et al.   Scientific Reports

Bone and Spinal Muscular Atrophy

(2015) Silvia Vai et al.   BONE

Association between diabetes and amyotrophic lateral sclerosis in Sweden

(2015) D. Mariosa et al.   EUROPEAN JOURNAL OF NEUROLOGY

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

(2015) Alexandre Henriques et al.   HUMAN MOLECULAR GENETICS

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

(2015) Sara E. Gombash et al.   HUMAN MOLECULAR GENETICS

Astrocytes influence the severity of spinal muscular atrophy

(2015) Hansjörg Rindt et al.   HUMAN MOLECULAR GENETICS

Cross-disease comparison of amyotrophic lateral sclerosis and spinal muscular atrophy reveals conservation of selective vulnerability but differential neuromuscular junction pathology

(2015) Laura H. Comley et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

(2015) Giorgia Querin et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Low hemoglobin A1C increases the risk of disability in community-dwelling older non-diabetics adults

(2015) K.-I. Kim et al.   Journal of Nutrition Health & Aging

Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II

(2015) Rebecca Hurst Davis et al.   JOURNAL OF PEDIATRICS

Altered expression of metabolic proteins and adipokines in patients with amyotrophic lateral sclerosis

(2015) S.T. Ngo et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk

(2015) Xinli Hu et al.   NATURE GENETICS

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

(2015) Suna Onengut-Gumuscu et al.   NATURE GENETICS

Novel applications of trophic factors, Wnt and WISP for neuronal repair and regeneration in metabolic disease

(2015) Kenneth Maiese   Neural Regeneration Research

Spinal Muscular Atrophy

(2015) Stephen J. Kolb et al.   NEUROLOGIC CLINICS

Multi-component molecular-level body composition reference methods: evolving concepts and future directions

(2015) S. B. Heymsfield et al.   Obesity Reviews

Glucagon Couples Hepatic Amino Acid Catabolism to mTOR-Dependent Regulation of α-Cell Mass

(2015) Mark J. Solloway et al.   Cell Reports

Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis

(2015) Mark H. B. Huisman et al.   JAMA Neurology

Diabetes Mellitus, Obesity, and Diagnosis of Amyotrophic Lateral Sclerosis

(2015) Marianthi-Anna Kioumourtzoglou et al.   JAMA Neurology

Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy

(2015) Wang Ni et al.   PLoS One

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

(2014) Nicola Vanni et al.   ANNALS OF NEUROLOGY

Interaction Between Bone and Muscle in Older Persons with Mobility Limitations

(2014) L. Ferrucci et al.   CURRENT PHARMACEUTICAL DESIGN

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

(2014) Angelina Cistaro et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

(2014) Justin G. Boyer et al.   HUMAN MOLECULAR GENETICS

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics

(2014) Katherine V. Bricceno et al.   HUMAN MOLECULAR GENETICS

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology

(2014) Melissa Bowerman et al.   HUMAN MOLECULAR GENETICS

Predicted and Measured Resting Energy Expenditure in Children with Spinal Muscular Atrophy 2

(2014) Luisa Cutillo et al.   JOURNAL OF PEDIATRICS

Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice

(2014) Li-Kai Tsai et al.   MOLECULAR THERAPY

Neurobiology of food intake in health and disease

(2014) Gregory J. Morton et al.   NATURE REVIEWS NEUROSCIENCE

Neuroprotective effects of leptin in the context of obesity and metabolic disorders

(2014) Cecilia Davis et al.   NEUROBIOLOGY OF DISEASE

Correlation of clinical and molecular features in spinal bulbar muscular atrophy

(2014) P. Fratta et al.   NEUROLOGY

Narrative Review: The Role of Leptin in Human Physiology: Emerging Clinical Applications

(2013) Theodore Kelesidis   ANNALS OF INTERNAL MEDICINE

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

(2013) D.A. Dyment et al.   CLINICAL GENETICS

Pathological impact ofSMN2mis-splicing in adult SMA mice

(2013) Kentaro Sahashi et al.   EMBO Molecular Medicine

Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production

(2013) Jered V. McGivern et al.   GLIA

Vitamin D Intake Is Inadequate in Spinal Muscular Atrophy Type I Cohort

(2013) Jennifer Aton et al.   JOURNAL OF CHILD NEUROLOGY

Nutritional Practices at a Glance

(2013) Rebecca Hurst Davis et al.   JOURNAL OF CHILD NEUROLOGY

Hypolipidemia in Patients with Amyotrophic Lateral Sclerosis: A Possible Gender Difference?

(2013) Ji Won Yang et al.   Journal of Clinical Neurology

New Onset of Constipation during Long-Term Physical Inactivity: A Proof-of-Concept Study on the Immobility-Induced Bowel Changes

(2013) Paola Iovino et al.   PLoS One

Metabolic signatures of amyotrophic lateral sclerosis reveal insights into disease pathogenesis

(2013) J. C. Dodge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy

(2013) Justin G Boyer et al.   Skeletal Muscle

The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Low Hemoglobin A1c in Nondiabetic Adults: An elevated risk state?

(2012) V. Aggarwal et al.   DIABETES CARE

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

(2012) Julia Schreml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks

(2012) Zarazuela Zolkipli et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II

(2012) Nicole Holuba LaMarca et al.   JOURNAL OF CHILD NEUROLOGY

Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy

(2012) Monir Shababi et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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(2012) Michela Murdocca et al.   MOLECULAR MEDICINE

Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I

(2012) Katherine E. Poruk et al.   NEUROMUSCULAR DISORDERS

Acute Leptin Treatment Enhances Functional Recovery after Spinal Cord Injury

(2012) Carmen María Fernández-Martos et al.   PLoS One

Low Glycated Hemoglobin and Liver Disease in the U.S. Population

(2011) A. L. Christman et al.   DIABETES CARE

No evidence of an increased mortality risk associated with low levels of glycated haemoglobin in a non-diabetic UK population

(2011) R. Pfister et al.   DIABETOLOGIA

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

(2011) Marta Bosch-Marcé et al.   HUMAN MOLECULAR GENETICS

Early and Progressive Impairment of Spinal Blood Flow—Glucose Metabolism Coupling in Motor Neuron Degeneration of ALS Model Mice

(2011) Kazunori Miyazaki et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Prevalence and Risk Factors for Feeding and Swallowing Difficulties in Spinal Muscular Atrophy Types II and III

(2011) Yen-Shan Chen et al.   JOURNAL OF PEDIATRICS

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice

(2011) Li-Kai Tsai et al.   NEUROBIOLOGY OF DISEASE

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology

(2011) Mélissa Bowerman et al.   NEUROMUSCULAR DISORDERS

Amyotrophic Lateral Sclerosis Is Associated with Hypolipidemia at the Presymptomatic Stage in Mice

(2011) Sung-Min Kim et al.   PLoS One

A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci

(2011) Jonathan P. Bradfield et al.   PLoS Genetics

Glycated Hemoglobin Predicts Mortality in Nondiabetic Patients Receiving Chronic Peritoneal Dialysis

(2010) Kuan-Hsing Chen et al.   AMERICAN JOURNAL OF NEPHROLOGY

Impaired glucose tolerance in patients with amyotrophic lateral sclerosis

(2010) Pierre-Francois Pradat et al.   Amyotrophic Lateral Sclerosis

Low Hemoglobin A1c and Risk of All-Cause Mortality Among US Adults Without Diabetes

(2010) April P. Carson et al.  

ALS disease onset may occur later in patients with pre-morbid diabetes mellitus

(2010) A. Jawaid et al.   EUROPEAN JOURNAL OF NEUROLOGY

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

(2010) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi et al.   HUMAN MOLECULAR GENETICS

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

(2010) Adam K. Bevan et al.   HUMAN MOLECULAR GENETICS

Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice

(2010) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

Energy metabolism in amyotrophic lateral sclerosis

(2010) Luc Dupuis et al.   LANCET NEUROLOGY

Misfolded Mutant SOD1 Directly Inhibits VDAC1 Conductance in a Mouse Model of Inherited ALS

(2010) Adrian Israelson et al.   NEURON

Glycated Hemoglobin, Diabetes, and Cardiovascular Risk in Nondiabetic Adults

(2010) Elizabeth Selvin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Caloric Restriction Shortens Lifespan through an Increase in Lipid Peroxidation, Inflammation and Apoptosis in the G93A Mouse, an Animal Model of ALS

(2010) Barkha P. Patel et al.   PLoS One

Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy

(2009) Matthew E.R. Butchbach et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Clinical features of spinal and bulbar muscular atrophy

(2009) Lindsay E. Rhodes et al.   BRAIN

Hypermetabolism in ALS patients: an early and persistent phenomenon

(2009) C. Bouteloup et al.   JOURNAL OF NEUROLOGY

The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation

(2009) Rebeca Martínez-Hernández et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Bone loss in survival motor neuron (Smn−/−SMN2) genetic mouse model of spinal muscular atrophy

(2009) Srinivasan Shanmugarajan et al.   JOURNAL OF PATHOLOGY

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

(2009) Alexandra prufer de Queiroz Campos Araujo et al.   JOURNAL OF PEDIATRICS

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

(2009) Jeffrey C Barrett et al.   NATURE GENETICS

Valproic acid blocks excitability in SMA type I mouse motor neurons

(2009) Kristen Rak et al.   NEUROBIOLOGY OF DISEASE

Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy

(2009) Douglas M. Sproule et al.   NEUROMUSCULAR DISORDERS

The effects of an anabolic agent on body composition and pulmonary function in tetraplegia: a pilot study

(2009) L S Halstead et al.   SPINAL CORD

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Increased hepatic steatosis and insulin resistance in mice lacking hepatic androgen receptor

(2008) Hung-Yun Lin et al.   HEPATOLOGY

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

(2008) Michael P. Walker et al.   HUMAN MOLECULAR GENETICS

Dyslipidemia is a protective factor in amyotrophic lateral sclerosis

(2008) L. Dupuis et al.   NEUROLOGY

Feeding problems and malnutrition in spinal muscular atrophy type II

(2008) Sonia Messina et al.   NEUROMUSCULAR DISORDERS

Modeling Spinal Muscular Atrophy in Drosophila

(2008) Howard Chia-Hao Chang et al.   PLoS One