M. Kruer

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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

T. Wieland, J. Hardy, T. Meitinger, 2012, American journal of human genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

S. Schneider, K. Bhatia, W. Rooney, 2012, American Journal of Neuroradiology.

Guidelines for the use and interpretation of assays formonitoring autophagy (3rd edition)

Sangeeta Khare, Xin Qi, Ying Wang, 2016 .

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Identification of disease causing loci using an array-based genotyping approach on pooled DNA

David W Craig, D. Stephan, D. Craig, 2005, BMC Genomics.

Insights From Genetic Studies of Cerebral Palsy

Sheng-Chih Jin, H. Smithers-Sheedy, Sara A. Lewis, 2021, Frontiers in Neurology.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Daniela C. Zarnescu, J. Gécz, J. Vincent, 2020, Nature Genetics.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

S. Mane, K. Bilguvar, Sabrina C Burn, 2015, Tremor and other hyperkinetic movements.

Movement Disorders in Childhood

M. Salih, M. Kruer, Jennifer Heim, 2020, Clinical Child Neurology.

Chromosomal abnormality at 6p25.1–25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy

Jason J. Corneveaux, D. Stephan, D. Craig, 2007, Epilepsy Research.

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Hui Jiang, D. Yalnızoǧlu, Jianguo Zhang, 2016, Neurology: Genetics.

Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability

K. Bilguvar, Sara A. Lewis, M. Kruer, 2021, Neurology: Genetics.

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

C. Blackstone, S. Züchner, A. Dürr, 2015, Human molecular genetics.

SNP-based chromosomal copy number ascertainment following multiple displacement whole-genome amplification.

Jason J. Corneveaux, D. Stephan, D. Craig, 2007, BioTechniques.

Common data elements to standardize genomics studies in cerebral palsy

J. Gécz, N. Badawi, G. Baynam, 2022, Developmental medicine and child neurology.

Mutations disrupting neuritogenesis genes represent a major independent risk factor for cerebral palsy

Daniela C. Zarnescu, J. Gécz, S. Mane, 2020 .

Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome

R. Jech, J. Winkelmann, M. Zech, 2021, Annals of clinical and translational neurology.

Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies

W. Mason, R. Balice-Gordon, J. Dalmau, 2014, The Lancet Neurology.

Is Resting State Functional MRI Effective Connectivity in Movement Disorders Helpful? A Focused Review Across Lifespan and Disease

B. Sussman, A. Wilfong, S. Wyckoff, 2021, Frontiers in Neurology.

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

D. Revicki, H. Jinnah, W. Lenderking, 2019, Orphanet Journal of Rare Diseases.

Neurodegeneration with brain iron accumulation: a diagnostic algorithm.

N. Boddaert, M. Kruer, 2012, Seminars in pediatric neurology.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

J. Rosenfeld, S. Wells, S. Mane, 2016, American journal of human genetics.

New NBIA subtype

P. Hogarth, R. Woltjer, D. Rodriguez, 2013, Neurology.

Aggressive course in encephalitis with opsoclonus, ataxia, chorea, and seizures: the first pediatric case of γ-aminobutyric acid type B receptor autoimmunity.

R. Woltjer, J. Dalmau, J. Coryell, 2014, JAMA neurology.

Insulin inhibition of the proteasome is dependent on degradation of insulin by insulin-degrading enzyme.

W. Duckworth, J. Fawcett, F. Hamel, 2003, The Journal of endocrinology.

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

E. Bertini, A. Vanderver, D. Timmann, 2019, Neurology. Genetics.

Reduced action of insulin glargine on protein and lipid metabolism: possible relationship to cellular hormone metabolism.

W. Duckworth, J. Fawcett, M. Kruer, 2004, Metabolism: clinical and experimental.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

C. Brownstein, A. Beggs, S. Morton, 2017, Human molecular genetics.

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.

A. Koy, S. Çırak, S. Shafiee, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

J. Gécz, A. Bayat, J. Wynn, 2022, Nature Communications.

Safety, tolerability, and efficacy of fluoxetine as an antiviral for acute flaccid myelitis

R. DeBiasi, K. Tyler, J. Santoro, 2018, Neurology.

Inflammatory neurological disease in patients treated with tumor necrosis factor alpha inhibitors

R. Spain, D. Bourdette, A. Solomon, 2011, Multiple sclerosis.

A Scale to Assess Activities of Daily Living in Pantothenate Kinase‐Associated Neurodegeneration

D. Revicki, H. Jinnah, W. Lenderking, 2019, Movement disorders clinical practice.

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Courtney E. French, S. Gustincich, A. Bruselles, 2020, American journal of human genetics.

C19orf12 mutation leads to Karak pallido-pyramidal syndrome

F. Alkuraya, H. Houlden, Arif O. Khan, 2015 .

Top 10 Research Themes for Dystonia in Cerebral Palsy

J. Mink, D. Fehlings, B. Aravamuthan, 2022, Neurology.

Variability in Cerebral Palsy Diagnosis

M. Fahey, D. Fehlings, B. Aravamuthan, 2021, Pediatrics.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in Medicine.

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

R. Schüle, R. Boostani, T. Schwarzmayr, 2019, Nature Communications.

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

J. Liepert, C. Blackstone, S. Züchner, 2016, Neurology: Genetics.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Fatty acid hydroxylase-associated neurodegeneration

M. Kruer, A. Gregory, S. Hayflick, 2012 .

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

S. Mane, T. Nägele, T. Meitinger, 2020, American journal of human genetics.

Lessons from a pair of siblings with BPAN

G. B. Schaefer, Melanie A. Jones, J. Juusola, 2016, European Journal of Human Genetics.

Newly Characterized Forms of Neurodegeneration with Brain Iron Accumulation

M. Kruer, Joshua M Doorn, 2013, Current Neurology and Neuroscience Reports.

Pantothenate Kinase-Associated Neurodegeneration

M. Kruer, 2015 .

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

D. Meyerholz, B. Darbro, Xiao-jun Wang, 2015, Human molecular genetics.

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.

M. Sahin, A. Poduri, Sara A. Lewis, 2022, JAMA neurology.

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency

J. Parboosingh, M. Kruer, J. Weimer, 2013, Movement disorders : official journal of the Movement Disorder Society.

Underrepresentation of the term cerebral palsy in clinical genetics databases

A. Poduri, Sara A. Lewis, S. Srivastava, 2022, American journal of medical genetics. Part A.

Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy

K. Bilguvar, Sheng-Chih Jin, M. Fahey, 2021, Neurology: Genetics.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Z. Niu, Kristen Wigby, J. Friedman, 2022, Frontiers in Cell and Developmental Biology.

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder

A. Bayat, G. Le Guyader, Sara A. Lewis, 2023, bioRxiv.

Biallelic Mutations of TBC1D24 in Exercise‐Induced Paroxysmal Dystonia

M. Kurian, L. Raymond, Alba Sanchis-Juan, 2020, Movement disorders : official journal of the Movement Disorder Society.

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

F. Andermann, R. Shiang, E. Andermann, 2010, The Journal of Neuroscience.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies.

J. Dalmau, A. Saiz, J. Arpa, 2015, JAMA neurology.

Mutations in Gamma Adducin are Associated With Inherited Cerebral Palsy

R. Woltjer, H. Houlden, R. Steiner, 2013, Annals of neurology.

The neuropathology of neurodegeneration with brain iron accumulation.

M. Kruer, 2013, International review of neurobiology.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH‐associated neurodegeneration and mass lesions

J. Quinn, M. Merad, C. Rodríguez-Galindo, 2018, Cancer.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

J. Hardy, T. Meitinger, H. Prokisch, 2013, Brain : a journal of neurology.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

J. Hardy, A. Munnich, N. Boddaert, 2010, Annals of neurology.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

G. Carvill, I. Scheffer, H. Mefford, 2020, Human mutation.

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

A. O’Donnell-Luria, C. Brownstein, L. Swanson, 2022, Annals of clinical and translational neurology.

Cerebral palsy and genomics: an international consortium

Gareth Baynam, Richard F Wintle, J. Gécz, 2018, Developmental medicine and child neurology.

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

Nancy T. Malintan, N. Wood, A. Chiriță-Emandi, 2019, European journal of neurology.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

R. Pfundt, B. D. de Vries, C. Gilissen, 2019, Genetics in Medicine.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

J. Gécz, G. Ast, F. Glaser, 2022, American journal of human genetics.

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Genetics in Medicine.

Apical ballooning resulting from limbic encephalitis.

S. Kaul, J. Gelow, V. Yadav, 2009, The American journal of medicine.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2017, Genetics in Medicine.

The value of positron emission tomography and proliferation index in predicting progression in low-grade astrocytomas of childhood

K. Mathieson, A. Kaplan, P. Dickman, 2009, Journal of Neuro-Oncology.

Opsoclonus–myoclonus–ataxia syndrome in children

M. Kruer, P. Bhatia, Jennifer Heim, 2021, Journal of Neurology.

Pediatric movement disorders.

M. Kruer, 2015, Pediatrics in review.

Role of child neurologists and neurodevelopmentalists in the diagnosis of cerebral palsy

M. Shevell, M. Fahey, B. Russman, 2020, Neurology.

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

J. Gécz, Changlian Zhu, L. Pérez-Jurado, 2019, Journal of child neurology.

The genetic basis of cerebral palsy

J. Gécz, A. Maclennan, D. Kretzschmar, 2017, Developmental medicine and child neurology.

Treatment Timing, EEG, Neuroimaging, and Outcomes After Acute Necrotizing Encephalopathy in Children

Varina L. Boerwinkle, S. Foldes, D. Neilson, 2021, Journal of child neurology.

C19orf12 mutation leads to a pallido-pyramidal syndrome.

F. Alkuraya, H. Houlden, Arif O. Khan, 2014, Gene.

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.

M. Grafe, R. Woltjer, A. Malandrini, 2011, Brain : a journal of neurology.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

M. Vidailhet, V. Fung, J. Winkelmann, 2021, Movement disorders : official journal of the Movement Disorder Society.

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

D. Stephan, S. Szelinger, D. Craig, 2008, American journal of human genetics.

Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities

S. Wells, D. Kullmann, P. Oliver, 2018, Disease Models & Mechanisms.

Dynamic Resting State Motor Network Connectivity of Neurotypical Children, the Groundwork for Network-Guided Therapy in Childhood Movement Disorders

Justin M. Fine, B. Sussman, A. Wilfong, 2021, bioRxiv.

BRAF-V600E in Peripheral Mononuclear Cells and Microglia-like Brain Cells Suggest Hematopoietic Origin of Langerhans Cell Histiocytosis-Associated Neurodegeneration

J. Quinn, M. Merad, C. Rodríguez-Galindo, 2017 .

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

S. Efthymiou, R. Maroofian, H. Houlden, 2021, medRxiv.

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

B. Dallapiccola, M. Tartaglia, B. Cogné, 2022, Clinical genetics.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

T. Strom, H. Venselaar, R. Maroofian, 2020, Genetics in Medicine.

Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic Review

F. Jensen, M. Gannotti, M. Msall, 2021, Annals of neurology.

Subacute Necrotizing Encephalomyelopathy

M. Kruer, T. Koch, 2014 .

A transposase-derived gene required for human brain development

D. Torrents, N. Socci, Junfei Zhao, 2023, bioRxiv.

Deep Brain Stimulation for Pediatric Dystonia: A Review of the Literature and Suggested Programming Algorithm

D. Gilbert, Daniel A. N. Barbosa, M. Kruer, 2022, Journal of child neurology.

Dystonia in ATP2B3‐associated X‐linked spinocerebellar ataxia

D. Craig, V. Narayanan, M. Huentelman, 2016, Movement disorders : official journal of the Movement Disorder Society.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

A. Vanderver, I. Thiffault, B. Brais, 2023, Journal of Medical Genetics.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

R. Redon, V. Narayanan, A. Toutain, 2022, Human molecular genetics.

Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

Sara W. Bird, Erinna F. Lee, Michael D. Kim, 2016 .

Prospects for stem cell therapy in neuronal ceroid lipofuscinosis.

R. Steiner, P. Orchard, D. Pearce, 2013, Regenerative medicine.

"Additional trials are clearly needed to establish when and whether stem cell therapies should be applied to neuronal ceroid lipofuscinosis, and, if so, which forms of the disease are most likely to benefit from such therapies. "

R. Steiner, P. Orchard, D. Pearce, 2013 .

Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing

J. Fish, O. Klein, A. Slavotinek, 2015, American journal of medical genetics. Part A.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

T. Strom, C. Kim, H. Venselaar, 2020, Genetics in Medicine.

Uncertainties regarding cerebral palsy diagnosis: opportunities to operationalize the consensus definition

M. Fahey, I. Novak, M. Shevell, 2023, medRxiv.

A transposase-derived gene required for human brain development

D. Torrents, N. Socci, Junfei Zhao, 2023, bioRxiv.

People with Cerebral Palsy and Their Family’s Preferences about Genomics Research

J. Gécz, N. Badawi, G. Baynam, 2021, Public Health Genomics.

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum

H. Kinney, S. Warfield, L. Sleeper, 2016, Journal of neuropathology and experimental neurology.

Pantothenate kinase–associated neurodegeneration

M. Kruer, S. Padilla-Lopez, Sandra M. Nordlie, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts

T. Foltynie, K. Bhatia, H. Houlden, 2012, Neuroscience Letters.

Guanidinoacetate Methyltransferase Deficiency, a Treatable Neurodevelopmental Disorder

M. Kruer, H. Darvish, S. Bakhtiari, 2020, Journal of Pediatric Epilepsy.

Clinical actionability of genetic findings in cerebral palsy

R. Segel, R. Wintle, D. Fehlings, 2023, medRxiv.

A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity

M. Kruer, H. Darvish, S. Bakhtiari, 2023, neurogenetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

NMDA RECEPTOR ENCEPHALITIS MIMICKING SERONEGATIVE NEUROMYELITIS OPTICA

E. Waubant, D. Bourdette, R. Woltjer, 2010, Neurology.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

A. Munnich, N. Boddaert, R. Woltjer, 2010, Annals of Neurology.

Chronic striatal cholinergic interneuron excitation induces clinically-relevant dystonic behavior in mice

J. Perlmutter, J. McCall, S. Mennerick, 2023, bioRxiv.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

T. Kleefstra, F. Ramond, A. Riess, 2024, European journal of human genetics : EJHG.

Lisdexamfetamine Therapy in Paroxysmal Non‐kinesigenic Dyskinesia Associated with the KCNMA1‐N999S Variant

Z. Grinspan, B. Ben-Zeev, A. Meredith, 2021, Movement disorders clinical practice.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Marni J. Falk, J. Rosenfeld, S. Wells, 2016, American journal of human genetics.

Evolving understanding of CP phenotypes: the importance of dystonia.

M. Kruer, Bhooma R. Aravamuthan, Darcy Fehlings, 2024, Pediatric research.

Mutations in Gamma Adducin are Associated With Inherited Cerebral Palsy

R. Woltjer, H. Houlden, R. Steiner, 2013, Annals of neurology.

Potential clinical applications of advanced genomic analysis in cerebral palsy

M. Kruer, Shengpeng Jin, Sara A. Lewis, 2024, EBioMedicine.

Uncertainties Regarding Cerebral Palsy Diagnosis: Opportunities to Clarify the Consensus Definition.

M. Kruer, Michael C. Fahey, Bhooma R. Aravamuthan, 2024, Neurology. Clinical practice.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

C. Cytrynbaum, R. Weksberg, J. Lupski, 2024, NPJ genomic medicine.

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies

M. Shrader, K. Bjornson, M. Kruer, 2024, medRxiv.

Identification of critical regions for clinical features of distal 10q deletion syndrome

Z. Ou, S. Cheung, D. Peiffer, 2009, Clinical genetics.