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1. Preface
by Fogel, Brent L
Neurologic Clinics, ISSN 0733-8619, 11/2013, Volume 31, Issue 4, pp. xi - xii
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2. Full Text Next generation sequencing in clinical diagnosis
by Lee, Hane and Martinez-Agosto, Julian A and Rexach, Jessica and Fogel, Brent L
The Lancet Neurology, ISSN 1474-4422, 05/2019, Volume 18, Issue 5, pp. 426 - 426
Medical diagnosis | Laboratories | Next-generation sequencing
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3. Clinical Neurogenetics: Autosomal Dominant Spinocerebellar Ataxia
by Shakkottai, Vikram G and Fogel, Brent L
Neurologic Clinics, ISSN 0733-8619, 11/2013, Volume 31, Issue 4, pp. 987 - 1007
The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of... 
Autosomal dominant | Cerebellum | SCA | Spinocerebellar | Ataxia | PURKINJE-CELLS | CAG REPEATS | ADULT-ONSET | NEUROSCIENCES | CEREBELLAR ATAXIAS | RAT MODEL | CLINICAL NEUROLOGY | PKC-GAMMA | MACHADO-JOSEPH-DISEASE | MOTOR COORDINATION | TRANSGENIC MOUSE MODEL | POLYGLUTAMINE EXPANSIONS | Genetic Testing | Peptides | Machado-Joseph Disease - metabolism | Humans | Machado-Joseph Disease - diagnosis | Rats | Spinocerebellar Ataxias - metabolism | Spinocerebellar Ataxias - diagnosis | Animals | Mice | Disease Models, Animal | Machado-Joseph Disease - genetics | Spinocerebellar Ataxias - genetics
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4. Full Text Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency
by Fan, Judy and Fogel, Brent L
Cerebellum & ataxias, ISSN 2053-8871, 2018, Volume 5, Issue 1, pp. 12 - 3
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia,... 
Case studies | Vitamin B2 | Dosage and administration | Genetic aspects | Children | Diagnosis | Drug therapy | Diseases | Atrophy | Gait | Laboratories | Vitamin B | Genes | Ataxia | Mutation | Hearing impairment | Metabolism | Patients | Drug dosages | Age | Riboflavin | Spinocerebellar Ataxia | Neurogenetics | Cerebellar Ataxia | SLC52A2
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5. Full Text Autosomal-recessive cerebellar ataxias
by Fogel, Brent L
2018, ISBN 0444632336, Volume 147
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically... 
genome | cerebellar ataxia | exome | ataxia | friedreich ataxia | genetic disease | autosomal recessive | Iron-Binding Proteins - genetics | Genes, Recessive - genetics | Humans | Friedreich Ataxia - genetics
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6. Full Text Collaborative science unites researchers and a novel spastic ataxia gene
by Fogel, Brent L
Annals of Neurology, ISSN 0364-5134, 06/2018, Volume 83, Issue 6, pp. 1072 - 1074
EXOME | SPINOCEREBELLAR ATAXIA | PROTEIN | MODEL | MEDICINE | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | Ataxia
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7. Full Text Genetic and genomic testing for neurologic disease in clinical practice
by Fogel, Brent L
2018, ISBN 0444632336, Volume 147
The influence of genetics on neurologic disease is broad and it is becoming more common that clinicians are presented with a patient whose disease is likely of... 
genome | genetics | exome | diagnostic testing | next-generation sequencing | neurogenetics | Genetic Predisposition to Disease - genetics | Nervous System Diseases - genetics | Genetic Testing - methods | Nervous System Diseases - diagnosis | Humans | Genome - genetics
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8. Full Text Do mutations in the murine ataxia geneTRPC3cause cerebellar ataxia in humans?
: Letters: New Observations
by Fogel, Brent L and Hanson, Sonya M and Becker, Esther B. E
Movement Disorders, ISSN 0885-3185, 02/2015, Volume 30, Issue 2, pp. 284 - 286
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9. Full Text Clinical exome sequencing in neurogenetic and neuropsychiatric disorders
: Exomes in neurogenetics
by Fogel, Brent L and Lee, Hane and Strom, Samuel P and Deignan, Joshua L and Nelson, Stanley F
Annals of the New York Academy of Sciences, ISSN 0077-8923, 02/2016, Volume 1366, Issue 1, pp. 49 - 60
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10. Full Text Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
by Fogel, Brent L, MD and Perlman, Susan, Dr
Lancet Neurology, The, ISSN 1474-4422, 2007, Volume 6, Issue 3, pp. 245 - 257
Summary Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a diverse group of neurodegenerative disorders. Clinical phenotypes... 
Neurology | VITAMIN-E-DEFICIENCY | TOCOPHEROL TRANSFER PROTEIN | TRIPLET-REPEAT EXPANSION | STRAND-BREAK REPAIR | CENTRAL-NERVOUS-SYSTEM | TAY-SACHS-DISEASE | ONSET SPINOCEREBELLAR ATAXIA | CLINICAL NEUROLOGY | MARINESCO-SJOGREN-SYNDROME | OCULOMOTOR APRAXIA TYPE-1 | RETAINED TENDON REFLEXES | Atrophy | Cerebellar Ataxia - physiopathology | Friedreich Ataxia - physiopathology | Phenotype | Cerebellar Ataxia - genetics | Genes, Recessive - genetics | Abetalipoproteinemia - genetics | Humans | Vitamin E Deficiency - physiopathology | Abetalipoproteinemia - physiopathology | Cerebellum - pathology | Friedreich Ataxia - genetics
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11. Full Text Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature
by Martin Paucar and Alexander M.R. Taylor and Marios Hadjivassiliou and Brent L. Fogel and Per Svenningsson
Tremor and Other Hyperkinetic Movements, 10/2019, Volume 9, pp. 1 - 4
Background: Ataxias represent a challenging group of disorders due to significant clinical overlap. Here, we present a patient with early-onset progressive... 
senataxin | polyneuropathy | Ataxia | alpha-fetoprotein | cerebellar atrophy
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12. Full Text Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
by Lee, Hane and Deignan, Joshua L and Dorrani, Naghmeh and Strom, Samuel P and Kantarci, Sibel and Quintero-Rivera, Fabiola and Das, Kingshuk and Toy, Traci and Harry, Bret and Yourshaw, Michael and Fox, Michelle and Fogel, Brent L and Martinez-Agosto, Julian A and Wong, Derek A and Chang, Vivian Y and Shieh, Perry B and Palmer, Christina G. S and Dipple, Katrina M and Grody, Wayne W and Vilain, Eric and Nelson, Stanley F
JAMA, ISSN 0098-7484, 11/2014, Volume 312, Issue 18, pp. 1880 - 1887
IMPORTANCE: Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders. OBJECTIVE: To... 
ACMG RECOMMENDATIONS | INCIDENTAL FINDINGS | RETURN | MEDICINE, GENERAL & INTERNAL | DE-NOVO MUTATIONS | VARIANTS | GUIDELINES | STANDARDS | EPILEPSY | Rare Diseases - genetics | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Exome | Molecular Diagnostic Techniques | Adolescent | Adult | Female | Mutation | Child | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Infant, Newborn | Technology application | Usage | Genetic disorders | Exome sequencing | Diagnosis | Risk factors | Genetic screening | Genotype & phenotype | Genomes | Molecular biology | Medical diagnosis
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13. Full Text Childhood Cerebellar Ataxia
by Fogel, Brent L
Journal of Child Neurology, ISSN 0883-0738, 9/2012, Volume 27, Issue 9, pp. 1138 - 1145
Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to... 
ataxia | spinocerebellar ataxia | autosomal recessive | cerebellum | ANTIBODIES | DIAGNOSIS | MANAGEMENT | PREVALENCE | CLINICAL NEUROLOGY | CHILDREN | PATHOGENESIS | GENE | PEDIATRICS | LATE-ONSET CEREBELLAR | MUTATIONS | FRIEDREICH ATAXIA | Neuroimaging | Cerebellar Ataxia - genetics | Child | Humans | Age of Onset | Cerebellar Ataxia - etiology | Cerebellum | Children | Coordination | Etiology | Cerebellar ataxia | Age | children
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14. C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia
by Brent L. Fogel and Mochtar Pribadi and Sarah Pi and Susan L. Perlman and Daniel H. Geschwind and Giovanni Coppola
Movement Disorders, ISSN 0885-3185, 12/2012, Volume 27, Issue 14, p. 1835
Journal Article
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15. Full Text Clinical exome sequencing in neurologic disease
: AAN model coverage policy
by Fogel, Brent L and Satya-Murti, Saty and Cohen, Bruce H
Neurology: Clinical Practice, ISSN 2163-0402, 4/2016, Volume 6, Issue 2, pp. 164 - 176
110 | 111 | 325 | 329 | Review
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16. Full Text Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
by Fogel, Brent L and Hanson, Sonya M and Becker, Esther B. E
Movement Disorders, ISSN 0885-3185, 02/2015, Volume 30, Issue 2, pp. 284 - 286
MOONWALKER MICE | CLINICAL NEUROLOGY | Genetic Predisposition to Disease | Humans | Brain - pathology | Adult | Male | Ataxia - genetics | Mutation - genetics | TRPC Cation Channels - genetics | Ataxia - diagnosis | Genetic Heterogeneity
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17. Full Text Clinical exome sequencing in neurologic disease
by Fogel, Brent L and Satya-Murti, Saty and Cohen, Bruce H
Neurology: Clinical Practice, ISSN 2163-0402, 04/2016, Volume 6, Issue 2, pp. 164 - 176
The landscape of genetic diagnostic testing has changed dramatically with the introduction of next-generation clinical exome sequencing (CES), which provides... 
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18. Full Text Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
by Legati, Anea and Giovannini, Donatella and Nicolas, Gaël and López-Sánchez, Uriel and Quintáns, Beatriz and Oliveira, Joao and Sears, Renee L and Ramos, Eliana Marisa and Spiteri, Elizabeth and Sobrido, Maria and Carracedo, Angel and Castro-Fernández, Cristina and Cubizolle, Stéphanie and Fogel, Brent L and Goizet, Cyril and Jen, Joanna C and Kirdlarp, Suppachok and Lang, Anthony E and Miedzybrodzka, Zosia and Mitarnun, Witoon and Paucar, Martin and Paulson, Henry and Pariente, Jérémie and Richard, Anne-Claire and Salins, Naomi S and Simpson, Sheila A and Striano, Pasquale and Svenningsson, Per and Tison, François and Unni, Vivek K and Vanakker, Olivier and Wessels, Marja and Wetchaphanphesat, Suppachok and Yang, Michele and Boller, Francois and Campion, Dominique and Hannequin, Didier and Sitbon, Marc and Geschwind, H and Battini, Jean-Luc and Coppola, Domenico
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 579 - 581
textabstractPrimary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other... 
DOMAIN-CONTAINING PROTEINS | HOMEOSTASIS | TRANSPORT | CELL-SURFACE RECEPTOR | GENE | BASAL GANGLIA CALCIFICATION | GENETICS & HEREDITY | RETROVIRUS | MURINE LEUKEMIA VIRUSES | MICE | Calcinosis - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Middle Aged | Male | Neurodegenerative Diseases - genetics | Mutation, Missense | Receptors, Virus - genetics | Lod Score | DNA Mutational Analysis | Pedigree | HEK293 Cells | Female | Receptors, G-Protein-Coupled - genetics | Brain Diseases, Metabolic, Inborn - genetics | Development and progression | Nervous system diseases | Genetic aspects | Gene mutations | Health aspects | Flow cytometry | Stroke | Genealogy | Medical imaging | Womens health | Calcification | Ligands | Mutation | Calcium phosphates | Life Sciences | Human health and pathology | Neurons and Cognition | Neurobiology | Genetics | Endocrinology and metabolism | Human genetics
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19. Full Text Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
by Fogel, Brent L and Lee, Hane and Deignan, Joshua L and Strom, Samuel P and Kantarci, Sibel and Wang, Xizhe and Quintero-Rivera, Fabiola and Vilain, Eric and Grody, Wayne W and Perlman, Susan and Geschwind, Daniel H and Nelson, Stanley F
JAMA Neurology, ISSN 2168-6149, 10/2014, Volume 71, Issue 10, pp. 1237 - 1246
IMPORTANCE: Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions.... 
MUTATIONS | UTILITY | CLINICAL NEUROLOGY | FEATURES | TOOL | Genetic Predisposition to Disease | Humans | Middle Aged | Child, Preschool | Male | Sequence Analysis, DNA | Young Adult | Exome - genetics | Phenotype | Cerebellar Ataxia - genetics | Adolescent | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies
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20. Full Text Whole exome sequencing in patients with white matter abnormalities
by Vanderver, Adeline and Simons, Cas and Helman, Guy and Crawford, Joanna and Wolf, Nicole I and Bernard, Geneviève and Pizzino, Amy and Schmidt, Johanna L and Takanohashi, Asako and Miller, David and Khouzam, Amirah and Rajan, Vani and Ramos, Erica and Chowdhury, Shimul and Hambuch, Tina and Ru, Kelin and Baillie, Gregory J and Grimmond, Sean M and Caldovic, Ljubica and Devaney, Joseph and Bloom, Miriam and Evans, Sarah H and Murphy, Jennifer L. P and McNeill, Nathan and Fogel, Brent L and Schiffmann, Raphael and van der Knaap, Marjo S and Taft, Ryan J and Gropman, Andrea L and Rosser, Tena and Pearl, Phillip L and Fung, Eva and Parikh, Sumit and Cohen, Bruce H and Reggin, James D and Yalcinkaya, Cengiz and Shafrir, Yuval and MarcDiFazio and Freilich, Emily and Lourenco, Charles M and Tesi‐Rocha, Carolina and Desai, Jay and Amartino, Hernan and Weaver, K. Nicole and Long, Valynne and Gambello, Michael J and Cirillo, Melissa L and Kahn, Ilana and Gill, Deepak and Gieron, Maria and de Los Reyes, Emily and Lavenstein, Bennett and Lanpher, Brendan C and Kurleman, Gerhard and Leukodystrophy Study Grp and Leukodystrophy Study Group
Annals of Neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 1031 - 1037
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of... 
INTELLECTUAL DISABILITY | DIAGNOSIS | LEUKOENCEPHALOPATHY | HYPOMYELINATION | DE-NOVO MUTATION | GENE | LEUKODYSTROPHIES | DISEASE | DISORDERS | NEUROSCIENCES | GENOME | CLINICAL NEUROLOGY | Leukoencephalopathies - pathology | Leukoencephalopathies - genetics | Humans | Child, Preschool | Male | White Matter - pathology | Young Adult | Exome - genetics | DNA Mutational Analysis | Leukoencephalopathies - diagnosis | Adolescent | Adult | Female | Mutation | Child | Attention deficit disorder | Leukodystrophy | Abnormalities | Diagnostic systems | Substantia alba | Leukoencephalopathy | Patients | Incidental Findings | MRI Pattern Recognition | Whole Exome Sequencing
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