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1.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Nascimento, Andres; Bruels, Christine C; Donkervoort, Sandra; Foley, A Reghan; Codina, Anna; Milisenda, Jose C; Estrella, Elicia A; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A; Pais, Lynn S; Ganesh, Vijay S; O'Donnell-Luria, Anne; Syeda, Safoora B; Carrera-García, Laura; Expósito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G W; Mammen, Andrew L; Grau-Junyent, Josep M; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S; Darras, Basil T; Jou, Cristina; Kunkel, Louis M; Hoenicka, Janet; Bönnemann, Carsten G; Kang, Peter B; Natera-de Benito, Daniel.

Acta Neuropathol ; 145(4): 479-496, 2023 04.

Article in English | MEDLINE | ID: mdl-36799992

2.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren Dm; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed Oe; Mohassel, Payam; Foley, A Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G; Wentzensen, Ingrid M; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S; Goldstein, David B; Schoser, Benedikt; Rösler, Kai M.

EMBO J ; 37(23)2018 12 03.

Article in English | MEDLINE | ID: mdl-30420557

3.

Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.

Gable, Dustin L; Mo, Alisa; Estrella, Elicia; Saffari, Afshin; Ghosh, Partha S; Ebrahimi-Fakhari, Darius.

Am J Med Genet A ; 188(12): 3531-3534, 2022 12.

Article in English | MEDLINE | ID: mdl-35975723

4.

Developing outcome measures of disease activity in pediatric myasthenia.

Prior, Devin E; Cooper, Baillee A; Zhang, Bo; Ghosh, Partha S.

Muscle Nerve ; 63(5): 751-757, 2021 05.

Article in English | MEDLINE | ID: mdl-33604899

5.

Update on Muscular Dystrophies with Focus on Novel Treatments and Biomarkers.

Datta, Neil; Ghosh, Partha S.

Curr Neurol Neurosci Rep ; 20(6): 14, 2020 05 14.

Article in English | MEDLINE | ID: mdl-32409939

6.

Neuralgic amyotrophy in children.

Al-Ghamdi, Fouad; Ghosh, Partha S.

Muscle Nerve ; 57(6): 932-936, 2018 06.

Article in English | MEDLINE | ID: mdl-29315708

7.

A Boy with Herculean Appearance.

Wright, Sarah; Ghosh, Partha S.

J Pediatr ; 244: 245-246, 2022 05.

Article in English | MEDLINE | ID: mdl-34953819

8.

Reliability of a novel ultrasound system for gray-scale analysis of muscle.

O'brien, Travis G; Cazares Gonzalez, Meaghan L; Ghosh, Partha S; Mandrekar, Jay; Boon, Andrea J.

Muscle Nerve ; 56(3): 408-412, 2017 09.

Article in English | MEDLINE | ID: mdl-27977846

9.

Clinical and laboratory findings of 21 patients with radiation-induced myopathy.

Ghosh, Partha S; Milone, Margherita.

J Neurol Neurosurg Psychiatry ; 86(2): 152-8, 2015 Feb.

Article in English | MEDLINE | ID: mdl-24838910

10.

Camptocormia as presenting manifestation of a spectrum of myopathic disorders.

Ghosh, Partha S; Milone, Margherita.

Muscle Nerve ; 52(6): 1008-12, 2015 Dec.

Article in English | MEDLINE | ID: mdl-25900737

11.

Inclusion-body myositis presenting with facial diplegia.

Ghosh, Partha S; Laughlin, Ruple S; Engel, Andrew G.

Muscle Nerve ; 49(2): 287-9, 2014 Feb.

Article in English | MEDLINE | ID: mdl-24038039

12.

Single-institution Series of Hirayama Disease in North America.

Lynch, Benjamin T; Slingerland, Anna L; Robson, Caroline D; Ghosh, Partha S; Hedequist, Daniel J; Proctor, Mark R; Fehnel, Katie P.

Clin Spine Surg ; 37(1): 9-14, 2024 02 01.

Article in English | MEDLINE | ID: mdl-37491712

13.

Noncovalent template-assisted mimicry of multiloop protein surfaces: assembling discontinuous and functional domains.

Ghosh, Partha S; Hamilton, Andrew D.

J Am Chem Soc ; 134(32): 13208-11, 2012 Aug 15.

Article in English | MEDLINE | ID: mdl-22839643

14.

Supramolecular dendrimers: convenient synthesis by programmed self-assembly and tunable thermoresponsivity.

Ghosh, Partha S; Hamilton, Andrew D.

Chemistry ; 18(8): 2361-5, 2012 Feb 20.

Article in English | MEDLINE | ID: mdl-22267264

15.

Neurological complications following pediatric liver transplant.

Ghosh, Partha S; Hupertz, Vera; Ghosh, Debabrata.

J Pediatr Gastroenterol Nutr ; 54(4): 540-6, 2012 Apr.

Article in English | MEDLINE | ID: mdl-22167017

16.

Generalized anhidrosis in a child following presumptive H1N1 influenza.

Ghosh, Partha S; Mitra, Sudeshna; Fealey, Robert D.

Clin Auton Res ; 22(2): 109-12, 2012 Apr.

Article in English | MEDLINE | ID: mdl-21892655

17.

Deep brain stimulation in children with dystonia: experience from a tertiary care center.

Ghosh, Partha S; Machado, Andre G; Deogaonkar, Milind; Ghosh, Debabrata.

Pediatr Neurosurg ; 48(3): 146-51, 2012.

Article in English | MEDLINE | ID: mdl-23296077

18.

Electromyography in infants: experience from a pediatric neuromuscular center.

Irumudomon, Obehioya T; Ghosh, Partha S.

Acta Neurol Belg ; 122(5): 1195-1200, 2022 Oct.

Article in English | MEDLINE | ID: mdl-33891285

19.

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.

Bruels, Christine C; Littel, Hannah R; Daugherty, Audrey L; Stafki, Seth; Estrella, Elicia A; McGaughy, Emily S; Truong, Don; Badalamenti, Jonathan P; Pais, Lynn; Ganesh, Vijay S; O'Donnell-Luria, Anne; Stalker, Heather J; Wang, Yang; Collins, Christin; Behlmann, Andrea; Lemmers, Richard J L F; van der Maarel, Silvère M; Laine, Regina; Ghosh, Partha S; Darras, Basil T; Zingariello, Carla D; Pacak, Christina A; Kunkel, Louis M; Kang, Peter B.

Ann Clin Transl Neurol ; 9(8): 1302-1309, 2022 08.

Article in English | MEDLINE | ID: mdl-35734998

20.

Reply.

Ghosh, Partha S; Milone, Margherita.

Muscle Nerve ; 54(2): 343-4, 2016 08.

Article in English | MEDLINE | ID: mdl-27014797

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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.

Developing outcome measures of disease activity in pediatric myasthenia.

Update on Muscular Dystrophies with Focus on Novel Treatments and Biomarkers.

Neuralgic amyotrophy in children.

A Boy with Herculean Appearance.

Reliability of a novel ultrasound system for gray-scale analysis of muscle.

Clinical and laboratory findings of 21 patients with radiation-induced myopathy.

Camptocormia as presenting manifestation of a spectrum of myopathic disorders.

Inclusion-body myositis presenting with facial diplegia.

Single-institution Series of Hirayama Disease in North America.

Noncovalent template-assisted mimicry of multiloop protein surfaces: assembling discontinuous and functional domains.

Supramolecular dendrimers: convenient synthesis by programmed self-assembly and tunable thermoresponsivity.

Neurological complications following pediatric liver transplant.

Generalized anhidrosis in a child following presumptive H1N1 influenza.

Deep brain stimulation in children with dystonia: experience from a tertiary care center.

Electromyography in infants: experience from a pediatric neuromuscular center.

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.

Reply.