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Differential
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anosmia
ataxia
ataxia, cerebellar
cerebellar atrophy, primary
cerebellar degeneration
clubfoot as related to neurologic disease
dysarthria
dysmetria
exome sequencing
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genetic neurologic disorders
genetic testing
hearing loss
hypogonadism
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hyposmia
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incoordination
Kallmann's syndrome
magnetic stimulation, brain
neuroendocrinology
neuropathy
neuropathy, demyelinating
next-generation sequencing
ovarian dysgenesis
Perrault syndrome
pituitary, lesion of
sensorineural hearing loss
smell
synkinesis
urinary gonadotropin
wide based gait
Showing articles 0 to 30 of 30

Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024

Cortically Evoked Motor Responses in Patients with Xp22. 3-Linked Kallmann's Syndrome and in Female Gene Carriers
Ann Neurol 31:299-304, Danek,A.,et al, 1992

Neurologic Findings in Men with Isolated Hypogonadotropic Hypogonadism
Neurol 39:223-226, Schwankhau,J.D.,et al, 1989

Syndrome of Cerebellar Ataxia and Hypogonadotrophic Hypogonadism:Evidence for Pituitary Gonadotrophin Deficiency
JNNP 52:407-409, Fox,A.C.K.,et al, 1989

Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024

A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016

Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013

Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010

Prolactinomas
NEJM 362:1219-1226, Klibanski,A., 2010

A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010

Sarcoidosis: Clinical, Hormonal, and Magnetic Resonance Imaging (MRI) Manifestations of Hypothalamic-Pituitary Disease in 9 Patients and Review of the Literature
Medicine 86:259-268, Bihan,H.,et al, 2007

Late-Onset Cerebellar Ataxia with Hypogonadism and Muscle Coenzyme Q10 Deficiency
Neurol 62:818-820, Gironi,M.,et al, 2004

Prolactinoma
NEJM 349:2035-2041, Schlechte,J.A., 2003

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Diagnosis and Management of Pituitary Tumours
BMJ 308:1087-1091, Levy,A.&Lightman,S.L., 1994

Hypothalamic-Pituitary Dysfunction after Radiation for Brain Tumors
NEJM 328:87-94, Constine,L.S.,et al, 1993

Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
NEJM 326:1752-1755, 17751992., Bick,D.,et al, 1992

Accelerated Aging of the Brain in Werner's Syndrome
Neurol 42:922-924, Kakigi,R.,et al, 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
Arch Neurol 47:1117-1120, Warner,C.L.,et al, 1990

Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990

Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983

Isolated CNS Sarcoidosis
JAMA 245:62-63, Cariski,A.T., 1981

Myotonic Dystrophy
In Harrison's Principles of Internal Medicine, 9th Ed, McGraw-Hill Book Co, NY 206180., Adams,R.D.,et al, 1980

Abnormal Iris Vasculature in Myotonic Dystrophy
Arch Neurol 35:224, Stern,L.Z.,et al, 1978

Prolactin-Secreting Tumors & Hypogonadism in 22 Men
NEJM 299:847-852, Carter,J.N.,et al, 1978

Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
Neurol 27:1107-1113, Griffin,J.W.,et al, 1977

The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968



Showing articles 0 to 30 of 30