Narcolepsy is a common phenotype in HSAN IE and ADCA-DN

Brain

Volumn 137, Issue 6, 2014, Pages 1643-1655

  Moghadam, Keivan Kaveh ^a   Pizza, Fabio ^a,b   La Morgia, Chiara ^a,b   Franceschini, Christian ^c   Tonon, Caterina ^d   Lodi, Raffaele ^d   Barboni, Piero ^e,f   Seri, Marco ^d   Ferrari, Simona ^d   Liguori, Rocco ^a,b   Donadio, Vincenzo ^b   Parchi, Piero ^a,b   Cornelio, Ferdinando ^g   Inzitari, Domenico ^h   Mignarri, Andrea ⁱ   Capocchi, Giuseppe ^j   Dotti, Maria Teresa ⁱ   Winkelmann, Juliane ^k,l   Lin, Ling ^l   Mignot, Emmanuel ^l   Carelli, Valerio ^a,b   Plazzi, Giuseppe ^a,b   more..

^a UNIVERSITY OF BOLOGNA   (Italy)

^b IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e Studio Oculistico d'Azeglio   (Italy)

^f SAN RAFFAELE HOSPITAL   (Italy)

^g DEPARTMENT OF NEUROSURGERY   (Italy)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ UNIVERSITY OF SIENA   (Italy)

^j S MARIA HOSPITAL   (Italy)

^k TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^l STANFORD UNIVERSITY   (United States)

more..

Author keywords

ADCA DN; cataplexy; DNMT1; HSAN IE; narcolepsy; neurodegeneration

Indexed keywords

AMYLOID BETA PROTEIN[1-42]; CLOMIPRAMINE; CYSTEINE ETHYL ESTER TC 99M; DNA METHYLTRANSFERASE 1; HLA DQB1 ANTIGEN; IOFLUPANE I 123; METHYLPHENIDATE; MODAFINIL; OREXIN A; OXYBATE SODIUM; PROTEIN 14 3 3; TAU PROTEIN; TRINUCLEOTIDE; VENLAFAXINE;

ADULT; ARTICLE; ATAXIC GAIT; AUTONOMIC NEUROPATHY; AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, DEAFNESS AND NARCOLEPSY; AUTOSOMAL DOMINANT DISORDER; BRAIN; CATAPLEXY; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID; CLINICAL ARTICLE; DAYTIME SOMNOLENCE; DEMENTIA; DEPRESSION; DOPPLER ECHOGRAPHY; ECHOCARDIOGRAPHY; EXON; EYE EXAMINATION; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION; HEARING; HEARING IMPAIRMENT; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEMENTIA AND HEARING LOSS TYPE IE; HETEROZYGOTE; HUMAN; IMPAIRED GLUCOSE TOLERANCE; LABORATORY TEST; LEG EDEMA; LYMPHOSCINTIGRAPHY; MALE; MIDDLE AGED; MUSCLE BIOPSY; NARCOLEPSY; NERVE BIOPSY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTICAL COHERENCE TOMOGRAPHY; PERCEPTION DEAFNESS; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; POINT MUTATION; POLYNEUROPATHY; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SENSORY NEUROPATHY; SIBLING; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SKIN BIOPSY; SLEEP; SURAL NERVE; SYMPTOM;

ADCA-DN; CATAPLEXY; DNMT1; HSAN IE; NARCOLEPSY; NEURODEGENERATION;

14-3-3 PROTEINS; ADULT; DEAFNESS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MUTATION; NARCOLEPSY; OLIVOPONTOCEREBELLAR ATROPHIES; PEDIGREE; PHENOTYPE;

EID: 84901476468     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu069     Document Type: Article

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