Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy

A 12-Year-Old Girl With Encephalopathy and Acute Flaccid Paralysis: A Neuropathological Correlation and Cohort Review

(2017) Young-Min Kim et al.   PEDIATRIC NEUROLOGY

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

(2016) Ellen Knierim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

(2016) Antonella Sferra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acute flaccid myelitis: A clinical review of US cases 2012-2015

(2016) Kevin Messacar et al.   ANNALS OF NEUROLOGY

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis

(2016) Gudrun Schottmann et al.   BRAIN

Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications

(2016) Michelle A. Farrar et al.   BRAIN

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

(2016) Jijun Wan et al.   BRAIN

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature

(2016) Xinghua Luan et al.   BRAIN & DEVELOPMENT

Stress granules at the intersection of autophagy and ALS

(2016) Zachary Monahan et al.   BRAIN RESEARCH

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter

(2016) Manoj P. Menezes et al.   CLINICAL NEUROPHYSIOLOGY

Amyotrophic lateral sclerosis

(2016) Matthew A. White et al.   CURRENT OPINION IN NEUROLOGY

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

(2016) Massimiliano Filosto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The utility of genetic testing in neuromuscular disease: A consensus statement from the AANEM on the clinical utility of genetic testing in diagnosis of neuromuscular disease

(2016) Charles D. Kassardjian et al.   MUSCLE & NERVE

Motor neuropathy contributes to crouching in patients with Dravet syndrome

(2016) Cyril Gitiaux et al.   NEUROLOGY

Neurologic involvement in patients with atypical Chediak-Higashi disease

(2016) Wendy J. Introne et al.   NEUROLOGY

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

(2016) Andreas Unger et al.   NEUROLOGY

Novel motor phenotypes in patients withVRK1mutations without pontocerebellar hypoplasia

(2016) Marion Stoll et al.   NEUROLOGY

TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature

(2016) F. Biasini et al.   NEUROMUSCULAR DISORDERS

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

(2016) Christeen Ramane J. Pedurupillay et al.   NEUROMUSCULAR DISORDERS

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

(2016) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS

Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency

(2016) H. L. Teoh et al.   PEDIATRICS

Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation

(2016) Emel Oguz Akarsu et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Common Molecular Pathways in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2016) Jochen H. Weishaupt et al.   TRENDS IN MOLECULAR MEDICINE

Clinical Characteristics and Functional Motor Outcomes of Enterovirus 71 Neurological Disease in Children

(2016) Hooi-Ling Teoh et al.   JAMA Neurology

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

(2015) Celeste Montecchiani et al.   BRAIN

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations inASAH1

(2015) Guido Rubboli et al.   EPILEPSIA

MOTOR NEURON DISEASE: A CASE OF MISGUIDED THERAPEUTIC NIHILISM

(2015) Alexander Rossor et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis

(2015) Kohji Fukunaga et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Sensitivity and specificity of threshold tracking transcranial magnetic stimulation for diagnosis of amyotrophic lateral sclerosis: a prospective study

(2015) Parvathi Menon et al.   LANCET NEUROLOGY

A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy

(2015) X. Li et al.   NEUROLOGY

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

(2015) M. Scoto et al.   NEUROLOGY

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

(2015) Justin D. Wagner et al.   NEUROMUSCULAR DISORDERS

Phenotypic variability of TRPV4 related neuropathies

(2015) Teresinha Evangelista et al.   NEUROMUSCULAR DISORDERS

Pontocerebellar hypoplasia

(2014) Sabine Rudnik-Schöneborn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

(2014) Alexander M. Rossor et al.   BRAIN

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

(2014) Ayelet Halevy et al.   JOURNAL OF NEUROLOGY

A multidisciplinary clinic approach improves survival in ALS: a comparative study of ALS in Ireland and Northern Ireland

(2014) James Rooney et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Motor neuronopathy in Chediak–Higashi syndrome

(2014) S. Mathis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: A systematic review

(2014) Francesca Porro et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases

(2014) Giulietta Riboldi et al.   MOLECULAR NEUROBIOLOGY

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

(2014) R. J. Butterfield et al.   NEUROLOGY

ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia

(2014) U.-M. Sheerin et al.   NEUROLOGY

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

(2014) Christopher Grunseich et al.   NEUROMUSCULAR DISORDERS

The Genetics of Spinal Muscular Atrophy: Progress and Challenges

(2014) Michelle A. Farrar et al.   Neurotherapeutics

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

(2014) Veerle RC Eggens et al.   Orphanet Journal of Rare Diseases

Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances

(2014) J T Vollrath et al.   Cell Death & Disease

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

(2014) Veronika Boczonadi et al.   Nature Communications

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

(2014) Louisa Kent et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

(2013) Kristien Peeters et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

(2013) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Riluzole exerts central and peripheral modulating effects in amyotrophic lateral sclerosis

(2013) Steve Vucic et al.   BRAIN

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

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

Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation

(2013) Andrea Jarisch et al.   EUROPEAN JOURNAL OF PEDIATRICS

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

(2013) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

(2013) S. Rudnik-Schoneborn et al.   NEUROLOGY

Mutations inVRK1Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

(2013) Claudia Gonzaga-Jauregui et al.   JAMA Neurology

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

(2012) Nasim Vasli 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

TRPV4-associated skeletal dysplasias

(2012) Gen Nishimura et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS

(2012) Paloma González-Pérez et al.   NEUROBIOLOGY OF DISEASE

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

(2012) M. B. Harms et al.   NEUROLOGY

Muscle MRI in TRPV4-related congenital distal SMA

(2012) G. Astrea et al.   NEUROLOGY

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1

(2011) Alessandro Simonati et al.   ACTA NEUROPATHOLOGICA

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)

(2011) MANJU A KURIAN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature

(2011) Maria F. Messina et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation

(2011) Satoshi Yamashita et al.   JOURNAL OF NEUROLOGY

The distal hereditary motor neuropathies

(2011) Alexander M Rossor et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Non-5q spinal muscular atrophies: The alphanumeric soup thickens

(2011) B. T. Darras   NEUROLOGY

P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

(2011) Amelia Conte et al.   NEUROMUSCULAR DISORDERS

Neurologic Presentation of Triple A Syndrome

(2011) Abhijit Dixit et al.   PEDIATRIC NEUROLOGY

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

(2010) Peter Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease

(2010) Agnes A. Luty et al.   ANNALS OF NEUROLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Motor neuron disease: systematic reviews of treatment for ALS and SMA

(2010) R. W. Orrell   BRITISH MEDICAL BULLETIN

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32

(2010) M. B. Harms et al.   NEUROLOGY

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

(2010) J. Yan et al.   NEUROLOGY

The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study

(2010) T.A. Mavlyutov et al.   NEUROSCIENCE

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

(2009) Paul Renbaum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Practice Parameter update: The care of the patient with amyotrophic lateral sclerosis: Multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology

(2009) R. G. Miller et al.   NEUROLOGY

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22

(2009) Russell J. Butterfield et al.   NEUROMUSCULAR DISORDERS

The pharmacology of sigma-1 receptors

(2009) Tangui Maurice et al.   PHARMACOLOGY & THERAPEUTICS

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

(2008) Juliane Ramser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

(2008) Janna Nousbeck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

(2008) Inês Carrilho et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

(2008) Heidi O Nousiainen et al.   NATURE GENETICS