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acid maltase deficiency
acid maltase deficiency, adult
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Showing articles 50 to 100 of 2892 << Previous Next >>

Clinicopathologic Conference, Thyrotoxic Periodic Paralysis Associated with Graves Disease
NEJM 390:1514-1522, Case 13-2024, 2024

Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024

Intracranial Hypertension Associated with Poly-Cranio-Radicular-Neuropathies A Case Report and Review of the Literature
Neurologist 29:166-169, Eaton,J.E.,et al, 2024

A 55-Year -Old Woman with Painless Hand Weakness and Atrophy
Neurol 103:e209561, Ticku,H. & Katirji,B.,, 2024

A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024

A 61-Year-Old Man With Progressive Right Leg Numbness and Weakness
Neurol 103:e209900, Jones,F.J.S.,et al, 2024

Neuroleptic Malignant Syndrome
NEJM 391:1130-1138, Wijdicks,E.F.M. & Ropper,A.H., 2024

Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024

A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024

Lentiviral Gene Therapy for Cerebral adrenoleukodystrophy
NEJM 391:1302-1312,1358, Eichler,F.,et al, 2024

Clinicopathologic Conference, Myasthenia Gravis
NEJM 391:1441-1450, Case 32-2024, 2024

Cancer Frequency in MuSK Myasthenia Gravis and Histological Evidence of Paraneoplastic Etiology
Ann Neurol 96:1020-1025, Falso,S.,et al, 2024

A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024

Clinicopathologic Conference, Infective Endocarditis Due to Haemophilus Parainfluenza
NEJM 391:2148-2157, Case 38-2024, 2024

Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024

Calf Hypertrophy and Myoedema Unravel a Diagnosis of Severe Hypothyroidism
Neurol 102:e209138, Camargos, S.,et al, 2024

Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024

Risk of Stroke and Myocardial Infarction Among Initiators of Triptans
JAMA Neurol 81:248-254, Petersen,C.L.,et al, 2024

A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024

Rabbit Syndrome
Neurol102:e209275, Huynh,T.U., & Beckley, E.H., 2024

Posttransplant Anti-GABAA Receptor Antibody-Associated Autoimmune Encephalitis
Neurol 102:e209245, Togni,C.L.,et al, 2024

Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023

Clinicopathologic Conference, Factitious Disorder
NEJM 388:1609-1615, Case 13-2023, 2023

Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023

Risk of Stroke, Death, and Myocardial Infarction Following Transcarotid Artery Revascularization vs Carotid Endarterectomy in Patients with Standard Surgical Risk
JAMA Neurol 80:437-444,435, Liang,P.,et al, 2023

Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023

A Young Woman with Rapidly Progressive Weakness and Paresthesia
Neurol 101:676-681, Alwakeel,S.S.,et al, 2023

Polymyalgia Rheumatica
Lancet 402:1459-1472, Espigol-Frigole,G.,et al, 2023

A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023

Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023

Severe Amyloid-Related Imaging Abnormalities After Anti-B-Amyloid Monoclonal Antibody Treatment
Neurol 101:1079-1080, Bonami,S.,et al, 2023

Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023

A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
Neurol 100:254-258, Rivers,D.,et al, 2023

Cashew Nut Sign:A Concave Parenchymal Hemorrhage Caused by Cerebral Venous Thrombosis
Stroke 54:e38-e39, Schlechter,M.,et al, 2023

Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023

A 60-Year Old Man with Asymmetric Weakness and Persistent Fever
Neurol 100:530-536, Zheng,Y.,et al, 2023

A 67-Year-Old Woman with Progressive Tingling Sensations and Imlalance
Neurol 100:151-157, Horta,L.F.B.,et al, 2023

A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023

Clinicopathologic Conference, Functional Seiaures
NEJM 388:1210-1218, Case 10-2023, 2023

A 23-Year-Olf Man With Progressibe Asymmetric Weakness and Numbness
Neurol 100:674-682, Kaplan,E.H.,et al, 2023

Severe Hippocampal Atrophy in a Patient with Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy
JAMA Neurol 80:642-643, Bartels,F.,et al, 2023

Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023

Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023

An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
Neurol 101:e570-e575, Rodrigo-Gisbert,M.,et al, 2023

Multidisciplinary End-of-Life Care for a Patient with Amyotrophic Lateral Sclerosis Requesting Euthanasia
Lancet 402:484, Kruithof,W.J.,et al, 2023

Idiopathic Orbital Inflammation and Tolosa-Hunt Syndrome with Intracranial Extension
Neurol 101:371-374, Yu,S. & Chen,T., 2023

Neurologic Manifestations of Long COVID Differ Based on Acute COVID-19 Severity
Ann Neurol 94:146-159, Giraldo,G.S.P.,et al, 2023

Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023



Showing articles 50 to 100 of 2892 << Previous Next >>